A missense variant, p.(Ile269Asn), in MC4R as a secondary finding in a child with BCL11A-related intellectual disability

Beleford, DT; Van Ziffle, J; Hodoglugil, U; Slavotinek, AM

Beleford, DT; Slavotinek, AM (corresponding author), Univ Calif San Francisco, Dept Pediat, Div Med Genet, San Francisco, CA 94143 USA.; Slavotinek, AM (corresponding author), Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA.

EUROPEAN JOURNAL OF MEDICAL GENETICS, 2020; 63 (9):

Abstract

We describe a three year old female who underwent clinical exome sequencing and was diagnosed with BCL11Arelated intellectual disability/Dias-Logan sy......

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