A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus.

A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus.

Item
http://www.wikidata.org/entity/Q34606659
Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature.Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disordersHirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies?Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q.Umbilical cord ulceration in association with intestinal atresia in a child with deletion 13q and Hirschsprung's disease.Distal 13q Deletion Syndrome and the VACTERL association: case report, literature review, and possible implications.Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13.Hirschsprung disease, associated syndromes, and genetics: a review.The 13q- syndrome: the molecular definition of a critical deletion region in band 13q32.Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.Band-specific localization of the microsatellite at D13S71 by microdissection and enzymatic amplification.Hirschsprung's disease: genetic mutations in mice and men.
P2860

A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus.

Item
http://www.wikidata.org/entity/Q34606659
description
1991 nî lūn-bûn
@nan
1991 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
A case of Hirschsprung disease ...... mapping of one disease locus.
@ast
A case of Hirschsprung disease ...... mapping of one disease locus.
@en
A case of Hirschsprung disease ...... mapping of one disease locus.
@nl
type
label
A case of Hirschsprung disease ...... mapping of one disease locus.
@ast
A case of Hirschsprung disease ...... mapping of one disease locus.
@en
A case of Hirschsprung disease ...... mapping of one disease locus.
@nl
prefLabel
A case of Hirschsprung disease ...... mapping of one disease locus.
@ast
A case of Hirschsprung disease ...... mapping of one disease locus.
@en
A case of Hirschsprung disease ...... mapping of one disease locus.
@nl
P1433
P1476
P2093
P2888
P304
P31
P356
P433
P478
P577
P6179
P698
P356
P1433
P1476
A case of Hirschsprung disease ...... mapping of one disease locus.
@en
P2093
P2888
P304
P31
P356
P433
P478
P577
P6179
P698