Associated Papers
Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases.
Blackburn PR et al.
European Journal of Human Genetics : Ejhg, 2019
Loss of function BMP4 mutation supports the implication of the BMP/TGF-β pathway in the etiology of combined pituitary hormone deficiency.
Rodríguez-Contreras FJ et al.
American Journal of Medical Genetics. Part A, 2019
Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia.
Nixon TRW et al.
European Journal of Human Genetics : Ejhg, 2019
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.
Reis LM et al.
Human Genetics, 2011
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