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yet</button><a id="jr-fip-next" class="wsprkl btn" title="Jump to next match">▶</a></nav></nav></div><div id="jr-epub-interstitial" class="hidden"></div><div id="jr-content"><article data-type="main"><div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><div class="fm-sec"><h1 id="_NBK22262_"><span class="title" itemprop="name">Neonatal Diseases</span></h1><p class="fm-aai"><a href="#_NBK22262_pubdet_">Publication Details</a></p></div></div><div class="body-content whole_rhythm" itemprop="text"><div id="_abs_rndgid_" itemprop="description"><p>The human genome is often referred to as a "blueprint" and contains all
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of the information and instructions necessary for defining a human being.
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The term genome refers collectively to the DNA and associated protein
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molecules contained in an organism or a cell. The human genome consists
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of 23 pairs of chromosomes — threadlike packages of genes and other
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DNA — with each parent contributing one chromosome to each pair.</p><p>A gene is a specific sequence of DNA and is actually the functional
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unit of inheritance. Most genes contain the information needed to make
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a protein, or molecules that carry out all of a cell's vital activities.
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Therefore, slight variations in genes lead to slight changes in a protein.
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Although some human diseases are explained by alterations in a single
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gene or of a single chromosome, most are complex and may involve
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multiple genes and protein pathways.</p><p>A myriad of genes, as well as environmental factors, are believed
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to control the complex and integrated processes necessary for fetal
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development. When one or more of these processes goes awry, it can
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result in the birth of an individual with a genetic alteration.
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Scientific studies, often those that use other organisms as a model, will provide information about biological and
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regulatory processes involved in human development and will identify
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critical pathways in which genetic changes result in disease. This
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information will come not only from human studies, but also from other
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model organisms — such as mouse or yeast — that can provide insights into
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how key genes operate in complex systems.</p></div><div id="A65.diseases"><h2 id="_A65_diseases_">Diseases</h2><ul class="simple-list"><li class="half_rhythm"><div>
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<a href="/books/n/gnd/achondroplasia/?report=reader">Achondroplasia</a>
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</div></li><li class="half_rhythm"><div>
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<a href="/books/n/gnd/angelmansyndrome/?report=reader">Angelman syndrome</a>
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</div></li><li class="half_rhythm"><div>
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<a href="/books/n/gnd/cockaynesyndrome/?report=reader">Cockayne syndrome</a>
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</div></li><li class="half_rhythm"><div>
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<a href="/books/n/gnd/cysticfibrosis/?report=reader">Cystic fibrosis</a>
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</div></li><li class="half_rhythm"><div>
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<a href="/books/n/gnd/digeorgesyndrome/?report=reader">DiGeorge syndrome</a>
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</div></li><li class="half_rhythm"><div>
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<a href="/books/n/gnd/fragilexsyndrome/?report=reader">Fragile X syndrome</a>
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</div></li><li class="half_rhythm"><div>
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<a href="/books/n/gnd/marfansyndrome/?report=reader">Marfan syndrome</a>
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</div></li><li class="half_rhythm"><div>
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<a href="/books/n/gnd/praderwillisyndrome/?report=reader">Prader-Willi syndrome</a>
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</div></li><li class="half_rhythm"><div>
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<a href="/books/n/gnd/severecombinedimmunodeficiency/?report=reader">Severe combined immunodeficiency</a>
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</div></li><li class="half_rhythm"><div>
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<a href="/books/n/gnd/waardenburgsyndrome/?report=reader">Waardenburg syndrome</a>
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</div></li><li class="half_rhythm"><div>
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<a href="/books/n/gnd/wernersyndrome/?report=reader">Werner syndrome</a>
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</div></li><li class="half_rhythm"><div>
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<a href="/books/n/gnd/williamssyndrome/?report=reader">Williams syndrome</a>
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</div></li><li class="half_rhythm"><div>
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<a href="/books/n/gnd/zellwegersyndrome/?report=reader">Zellweger syndrome</a>
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</div></li></ul></div><div id="bk_toc_contnr"></div></div></div><div class="fm-sec"><h2 id="_NBK22262_pubdet_">Publication Details</h2><h3>Copyright</h3><div><div class="half_rhythm"><a href="/books/about/copyright/">Copyright Notice</a></div></div><h3>Publisher</h3><p><a href="https://www.ncbi.nlm.nih.gov/" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">National Center for Biotechnology Information (US)</a>, Bethesda (MD)</p><h3>NLM Citation</h3><p>National Center for Biotechnology Information (US). Genes and Disease [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1998-. Neonatal Diseases.<span class="bk_cite_avail"></span></p></div><div class="small-screen-prev"><a href="/books/n/gnd/A59/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M75,30 c-80,60 -80,0 0,60 c-30,-60 -30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Prev</text></svg></a></div><div class="small-screen-next"><a href="/books/n/gnd/A75/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M25,30c80,60 80,0 0,60 c30,-60 30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Next</text></svg></a></div></article></div><div id="jr-scripts"><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/libs.min.js"> </script><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.min.js"> </script></div></div>
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