A respiratory/Hirschsprung phenotype in a three‐generation family associated with a novel pathogenic PHOX2B splice donor mutation
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1528
Abstract: Mutations in the PHOX2B gene cause congenital central hypoventilation syndrome (CCHS), a rare autonomic nervous system dysfunction disorder characterized by a decreased ventilatory response to hypercapnia. Affected subjects develop alveolar hypoventilation requiring ventilatory support particularly… read more here.
Keywords: respiratory hirschsprung; generation family; family associated; hirschsprung phenotype ... See more keywords
Whole exome sequencing identifies hemizygous deletions in the UGT2B28 and USP17L2 genes in a three-generation family with endometriosis
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Medicine Reports"
DOI: 10.3892/mmr.2019.9818
Abstract: Endometriosis is an enigmatic condition with an unknown etiology and a poorly understood pathogenesis. It is considered to appear from the interplay of many genetic and environmental factors, affecting up to 10% of women and… read more here.
Keywords: endometriosis; exome sequencing; generation family; family ... See more keywords