Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26.
about
The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseasesDistinguishing 3 classes of corpus callosal abnormalities in consanguineous familiesOvergrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature.Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate geneA mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.
P2860
Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26.
description
2001 nî lūn-bûn
@nan
2001 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Localisation of a gene for an ...... ve facies to chromosome 15q26.
@ast
Localisation of a gene for an ...... ve facies to chromosome 15q26.
@en
type
label
Localisation of a gene for an ...... ve facies to chromosome 15q26.
@ast
Localisation of a gene for an ...... ve facies to chromosome 15q26.
@en
prefLabel
Localisation of a gene for an ...... ve facies to chromosome 15q26.
@ast
Localisation of a gene for an ...... ve facies to chromosome 15q26.
@en
P2093
P2860
P356
P1476
Localisation of a gene for an ...... ive facies to chromosome 15q26
@en
P2093
G Nürnberg
L I Al-Gazali
M Nur-E-Kamal
P2860
P304
P356
10.1136/JMG.38.6.369
P407
P577
2001-06-01T00:00:00Z