Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Greeshma Purushothama"'
Autor:
Michelle C. do Rosario, Greeshma Purushothama, Dhanya Lakshmi Narayanan, Shahyan Siddiqui, Katta Mohan Girisha, Anju Shukla
Publikováno v:
Clinical Dysmorphology. 32:112-115
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d43ff2583248396b384590283e9d1d51
https://doi.org/10.1097/mcd.0000000000000452
https://doi.org/10.1097/mcd.0000000000000452
Publikováno v:
American Journal of Medical Genetics Part A. 182:1313-1315
Burn-McKeown syndrome (BMKS) (MIM# 608572) is a rare condition caused by biallelic variants in TXNL4A. BMKS is characterized by craniofacial dysmorphism, choanal atresia, and normal intellect in affected individuals. BMKS has overlapping clinical fea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a689f346348e6231a57f2b8637e62bb0
https://doi.org/10.1002/ajmg.a.61554
https://doi.org/10.1002/ajmg.a.61554