Cargando…
The Role of De Novo Variants in Formation of Human Anorectal Malformations
Anorectal malformations (ARM) represent a rare birth defect of the hindgut that occur in approximately 1 in 3000 live births. Around 60% of ARM occur with associated anomalies including defined genetic syndromes and associations with chromosomal aberrations. The etiology of ARM is heterogeneous, wit...
Autores principales: | Dworschak, Gabriel C., van Rooij, Iris A. L. M., Reutter, Heiko M. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8466114/ https://www.ncbi.nlm.nih.gov/pubmed/34573284 http://dx.doi.org/10.3390/genes12091298 |
Ejemplares similares
-
High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations
por: Reutter, Heiko
Publicado: (2023) -
Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance
por: Dworschak, Gabriel C., et al.
Publicado: (2017) -
Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations
por: Wijers, Charlotte H. W., et al.
Publicado: (2010) -
The Role of De Novo Variants in Patients with Congenital Diaphragmatic Hernia
por: Bendixen, Charlotte, et al.
Publicado: (2021) -
Modelling human lower urinary tract malformations in zebrafish
por: Kolvenbach, Caroline M., et al.
Publicado: (2023)