European journal of medical genetics, Vol. 63, Issue 3, Pages 103742, 2019

PMID: 31421288

THOC6 is a newly described causal gene for an autosomal recessive intellectual disability (ID) – Beaulieu Boycott Innes syndrome (BBIS) (OMIM # 613680). It is characterized by ID with dysmorphic facies, genitourinary, cardiac anomalies, and dentition problems. Here, we report the first two siblings of BBIS from the Indian subcontinent with previously unreported skeletal anomalies such as Sprengel shoulder, calcaneo valgus deformity, radioulnar dysostosis, and overlapping toes.

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  https://www.ncbi.nlm.nih.gov/pubmed/31421288