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Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome

Wood, KA; Ellingford, JM; Thomas, HB; Douzgou, S; Beaman, GM; Hobson, E; Prescott, K; O'Keefe, RT; Newman, WG

Newman, WG (通讯作者),Manchester Univ NHS Fdn Trust, Manchester Ctr Genom Med, Manchester M13 9WL, Lancs, England.

CLINICAL GENETICS, 2022; 101 (2): 255

Abstract

The developmental disorder Burn-McKeown Syndrome (BMKS) is characterised by choanal atresia and specific craniofacial features. BMKS is caused by bial......

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