A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome.
about
Mosaicism for structural non-centromeric autosomal rearrangements in disease-defined carriers: sex differences in the rearrangements profile and maternal age distributions.Clinical utility gene card for: Wolf-Hirschhorn (4p-) syndrome.Phenotypic variations in wolf-hirschhorn syndromeFine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome.Familial Constitutional Rearrangement of Chromosomes 4 & 8: Phenotypically Normal Mother and Abnormal ProgenyUnmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome.Diagnosis of familial Wolf-Hirschhorn syndrome due to a paternal cryptic chromosomal rearrangement by conventional and molecular cytogenetic techniques
P2860
Q33709196-F6E5599E-E09F-4687-9F6D-980E50E11F49Q34694684-6A86EA87-F8F1-4ACB-948D-57E34B612428Q35140834-EFFB1337-B9BF-44A0-A067-05AA8EFC9C64Q35603630-71A3E01D-365D-41CE-A680-3DD48A4F1828Q36898844-8609C30E-C7A0-43BA-97E9-7A836C97190CQ51901404-F6136035-80B8-4CC9-9D90-4F0AB834FDB7Q58920516-C3384CEE-4B94-424E-939E-24CBB8843F20
P2860
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome.
description
2004 nî lūn-bûn
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2004年の論文
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2004年論文
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2004年論文
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2004年論文
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name
A double cryptic chromosome im ...... y in Wolf-Hirschhorn syndrome.
@en
type
label
A double cryptic chromosome im ...... y in Wolf-Hirschhorn syndrome.
@en
prefLabel
A double cryptic chromosome im ...... y in Wolf-Hirschhorn syndrome.
@en
P2093
P2860
P356
P1476
A double cryptic chromosome im ...... y in Wolf-Hirschhorn syndrome.
@en
P2093
Alessandra Ferrarini
Angelo Selicorni
Giovanni Neri
Giuseppe Marangi
Giuseppe Zampino
Irene Mancuso
John M Opitz
Livia Garavelli
Marcella Zollino
Marina Murdolo
P2860
P2888
P304
P356
10.1038/SJ.EJHG.5201203
P577
2004-10-01T00:00:00Z