Open AccessSevere phenotype of X‐linked dominant chondrodysplasia punctata
Author(s) -
Damseh Nadirah,
Chong Karen,
Marshall Christian,
Kratz Lisa,
Teitelbaum Ronni,
Shan Patrick,
Kannu Peter
Publication year - 2017
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1008
Subject(s) - chondrodysplasia punctata , medicine , hypoplasia , syndactyly , smith–lemli–opitz syndrome , phenotype , exome sequencing , pathology , anatomy , genetics , biology , gene , biochemistry , 7 dehydrocholesterol reductase , reductase , enzyme
Key Clinical Message A prenatally ascertained case representing the more severe end of the X‐linked dominant chondrodysplasia punctata (CDPX2).