Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome

Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/32923

Scopus	Web of Science®	Altmetric
Citations
?	?

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. Fontès, M. Adès, L.C. Gecz, J.
Citation:	American Journal of Medical Genetics Part A, 2000; 91(1):83-83
Publisher:	Wiley-Liss
Issue Date:	2000
ISSN:	0148-7299 1096-8628
Statement of Responsibility:	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.
DOI:	10.1002/(SICI)1096-8628(20000306)91:1<83::AID-AJMG15>3.3.CO;2-E
Appears in Collections:	Aurora harvest Paediatrics publications

Files in This Item:

There are no files associated with this item.

Show full item record

Adelaide Research & Scholarship