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Skeletal dysplasia and progressive central nervous system degeneration, lethal

MedGen UID:
400685
Concept ID:
C1865117
Disease or Syndrome
Synonym: Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
 
Monarch Initiative: MONDO:0011263
OMIM®: 602613

Recent clinical studies

Etiology

Tham E, Eklund EA, Hammarsjö A, Bengtson P, Geiberger S, Lagerstedt-Robinson K, Malmgren H, Nilsson D, Grigelionis G, Conner P, Lindgren P, Lindstrand A, Wedell A, Albåge M, Zielinska K, Nordgren A, Papadogiannakis N, Nishimura G, Grigelioniene G
Eur J Hum Genet 2016 Feb;24(2):198-207. Epub 2015 May 13 doi: 10.1038/ejhg.2015.91. PMID: 25966638Free PMC Article

Diagnosis

Tham E, Eklund EA, Hammarsjö A, Bengtson P, Geiberger S, Lagerstedt-Robinson K, Malmgren H, Nilsson D, Grigelionis G, Conner P, Lindgren P, Lindstrand A, Wedell A, Albåge M, Zielinska K, Nordgren A, Papadogiannakis N, Nishimura G, Grigelioniene G
Eur J Hum Genet 2016 Feb;24(2):198-207. Epub 2015 May 13 doi: 10.1038/ejhg.2015.91. PMID: 25966638Free PMC Article

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