Cargando…
A Novel Locus for Ectodermal Dysplasia of Hair, Nail and Skin Pigmentation Anomalies Maps to Chromosome 18p11.32-p11.31
Ectodermal dysplasias (EDs) are a large heterogeneous group of inherited disorders exhibiting abnormalities in ectodermally derived appendages such as hair, nails, teeth and sweat glands. EDs associated with reticulated pigmentation phenotype are rare entities for which the genetic basis and pathoph...
Autores principales: | Habib, Rabia, Ansar, Muhammad, Mattheisen, Manuel, Shahid, Muhammad, Ali, Ghazanfar, Ahmad, Wasim, Betz, Regina C. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4483272/ https://www.ncbi.nlm.nih.gov/pubmed/26115030 http://dx.doi.org/10.1371/journal.pone.0129811 |
Ejemplares similares
-
Familial microdeletion 18p11.32 to 18p11.31 in a Chinese family with normal phenotype
por: Han, Miaomiao, et al.
Publicado: (2022) -
Identification of an Interstitial 18p11.32-p11.31 Duplication Including the EMILIN2 Gene in a Family with Porokeratosis of Mibelli
por: Occella, Corrado, et al.
Publicado: (2013) -
A novel case of global developmental delay syndrome with microdeletion at 10p14–p15.3 and microduplication at 18p11.31–p11.32
por: Zhang, Danyan, et al.
Publicado: (2019) -
Inherited deletion of 9p22.3‐p24.3 and duplication of 18p11.31‐p11.32 associated with neurodevelopmental delay: Phenotypic matching of involved genes
por: Ajami, Naser, et al.
Publicado: (2023) -
Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect
por: Srebniak, Malgorzata I, et al.
Publicado: (2011)