Biallelic loss‐of‐function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome
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چکیده
منابع مشابه
Biallelic TOR1A variants in an infant with severe arthrogryposis
DYT1 early-onset primary dystonia (DYT1) is a well-described dystonia caused by an in-frame GAG nucleotide deletion in the TOR1A gene, c.907_909delGAG. The only phenotype linked to TOR1A is dystonia. Homozygous GAG deletions or compound heterozygosity for mutations in TOR1A have never been reported in humans. Arthrogryposis, defined as multiple congenital contractures, affects 1 in 3,000–5,000 ...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2018
ISSN: 1552-4825,1552-4833
DOI: 10.1002/ajmg.a.38636