Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome

Definition:

Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome (CFSMR) is an autosomal recessive disease caused by TMCO1 deficiency. The function of TMCO1 is unknown, however, a critical role for TMCO1 in early fetal growth and development has been suggested.

References:

[1]. Baozhong Xin, et al. Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation. Proc Natl Acad Sci U S A. 2010 Jan 5;107(1):258-63. [Content Brief]

[2]. Yasemin Alanay, et al. TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia. Am J Med Genet A. 2014 Feb;164A(2):291-304. [Content Brief]

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