A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders-MedSci.cn

A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders

Mirchi, A; Derksen, A; Tran, LT; De Bie, I; Nadeau, A; Lovett, A; Raams, A; Vermeulen, W; Theil, AF; Bernard, G

Bernard, G (通讯作者)，McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada.;Bernard, G (通讯作者)，McGill Univ, Dept Pediat, Montreal, PQ, Canada.;Bernard, G (通讯作者)，Res Inst McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Montreal, PQ, Canada.;Bernard, G (通讯作者)，McGill Univ, Dept Human Genet, Montreal, PQ, Canada.;Bernard, G (通讯作者)，McGill Univ, Dept Specialized Med, Div Med Genet, Montreal, PQ, Canada.

Abstract

Cockayne syndrome is a rare inherited DNA repair multisystemic disorder. Here, we aim to raise awareness of the phenotypic resemblances between Cockay......

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A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders

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