Report for Lumish HS

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References (1)

Title : The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations - Lumish_2014_JIMD.Rep_16_75

Author(s) : Lumish HS , Yang Y , Xia F , Wilson A , Chung WK

Ref : JIMD Rep , 16 :75 , 2014

Abstract : Lumish_2014_JIMD.Rep_16_75

ESTHER : Lumish_2014_JIMD.Rep_16_75

PubMedSearch : Lumish_2014_JIMD.Rep_16_75

PubMedID: 24997715

Gene_locus related to this paper: human-SERAC1

Report for Lumish HS

General

References (1)

1. The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations