Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual.
about
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndromeIdentification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange SyndromeSpecial cases in Cornelia de Lange syndrome: The Spanish experience.Is one diagnosis the whole story? patients with double diagnoses.Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses.
P2860
Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual.
description
2012 nî lūn-bûn
@nan
2012 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Cornelia de Lange syndrome wit ...... ndrome in the same individual.
@ast
Cornelia de Lange syndrome wit ...... ndrome in the same individual.
@en
Cornelia de Lange syndrome wit ...... ndrome in the same individual.
@nl
type
label
Cornelia de Lange syndrome wit ...... ndrome in the same individual.
@ast
Cornelia de Lange syndrome wit ...... ndrome in the same individual.
@en
Cornelia de Lange syndrome wit ...... ndrome in the same individual.
@nl
prefLabel
Cornelia de Lange syndrome wit ...... ndrome in the same individual.
@ast
Cornelia de Lange syndrome wit ...... ndrome in the same individual.
@en
Cornelia de Lange syndrome wit ...... ndrome in the same individual.
@nl
P2093
P2860
P50
P356
P1433
P1476
Cornelia de Lange syndrome wit ...... ndrome in the same individual.
@en
P2093
Anna Polucha
Beatriz Puisac
Dorota Winnicka
Fausto G Hegardt
María Arnedo
María Concepción Gil-Rodríguez
María Esperanza Teresa-Rodrigo
P2860
P2888
P356
10.1186/1471-2350-13-43
P577
2012-06-07T00:00:00Z
P5875
P6179
1047048845