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Type: Journal article
Title: Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome
Author: Villard, L.
Fontes, M.
Ades, L.
Gecz, J.
Citation: American Journal of Medical Genetics. Part A, 2000; 91(1):83-85
Publisher: Wiley-Liss
Issue Date: 2000
ISSN: 1552-4825
Statement of
Laurent Villard, Michel Fontès, Lesley C. Adès, Jozef Gecz
Keywords: Face; Humans; Microcephaly; Abnormalities, Multiple; Syndrome; DNA Helicases; Nuclear Proteins; DNA; Pedigree; DNA Mutational Analysis; Sequence Deletion; Base Sequence; Sequence Homology, Nucleic Acid; Mutation; Frameshift Mutation; Point Mutation; Family Health; Female; Male; Intellectual Disability
Description: Letter to the Editor
Rights: © 2000 Wiley-Liss, Inc.
RMID: 0001003042
DOI: 10.1002/(SICI)1096-8628(20000306)91:1<83::AID-AJMG15>3.0.CO;2-N
Appears in Collections:Paediatrics publications

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