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Short-rib thoracic dysplasia 10 with polydactyly

MedGen UID:
865522
Concept ID:
C4017085
Finding
Synonym: SHORT-RIB THORACIC DYSPLASIA 10 WITH POLYDACTYLY
 
OMIM®: 607386

Professional guidelines

PubMed

Dugoff L, Coffin CT, Hobbins JC
Ultrasound Obstet Gynecol 1997 Oct;10(4):269-71. doi: 10.1046/j.1469-0705.1997.10040269.x. PMID: 9383879

Recent clinical studies

Etiology

Peng Y, Zhou L, Chen J, Huang X, Pang J, Liu J, Tang W, Yang S, Liang C, Xie W
BMC Med Genomics 2023 Dec 7;16(1):318. doi: 10.1186/s12920-023-01753-y. PMID: 38062428Free PMC Article
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A
Arch Gynecol Obstet 2022 Jul;306(1):71-83. Epub 2021 Oct 1 doi: 10.1007/s00404-021-06265-7. PMID: 34596737Free PMC Article
Ashraf T, Vaina C, Giri D, Burren CP, James M, Offiah AC, Overton T, Baptista J, Ellard S, Smithson SF
Am J Med Genet A 2020 Oct;182(10):2403-2408. Epub 2020 Aug 11 doi: 10.1002/ajmg.a.61781. PMID: 32783357
Dugoff L, Coffin CT, Hobbins JC
Ultrasound Obstet Gynecol 1997 Oct;10(4):269-71. doi: 10.1046/j.1469-0705.1997.10040269.x. PMID: 9383879

Diagnosis

Peng Y, Zhou L, Chen J, Huang X, Pang J, Liu J, Tang W, Yang S, Liang C, Xie W
BMC Med Genomics 2023 Dec 7;16(1):318. doi: 10.1186/s12920-023-01753-y. PMID: 38062428Free PMC Article
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A
Arch Gynecol Obstet 2022 Jul;306(1):71-83. Epub 2021 Oct 1 doi: 10.1007/s00404-021-06265-7. PMID: 34596737Free PMC Article
Ashraf T, Vaina C, Giri D, Burren CP, James M, Offiah AC, Overton T, Baptista J, Ellard S, Smithson SF
Am J Med Genet A 2020 Oct;182(10):2403-2408. Epub 2020 Aug 11 doi: 10.1002/ajmg.a.61781. PMID: 32783357
Antony D, Nampoory N, Bacchelli C, Melhem M, Wu K, James CT, Beales PL, Hubank M, Thomas D, Mashankar A, Behbehani K, Schmidts M, Alsmadi O
Eur J Med Genet 2017 Dec;60(12):658-666. Epub 2017 Sep 12 doi: 10.1016/j.ejmg.2017.08.019. PMID: 28870638
Dugoff L, Coffin CT, Hobbins JC
Ultrasound Obstet Gynecol 1997 Oct;10(4):269-71. doi: 10.1046/j.1469-0705.1997.10040269.x. PMID: 9383879

Clinical prediction guides

Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A
Arch Gynecol Obstet 2022 Jul;306(1):71-83. Epub 2021 Oct 1 doi: 10.1007/s00404-021-06265-7. PMID: 34596737Free PMC Article

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