Novel and recurrent genetic variants associated with male and female infertility
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Applied Genetics"
DOI: 10.1007/s13353-024-00935-3
Abstract: Recently, the knowledge of the genetic basis of fertility disorders has expanded enormously, mainly thanks to the use of next-generation sequencing (NGS). However, the genetic cause of infertility, in the majority of patients, is still… read more here.
Keywords: infertility; recurrent genetic; variants associated; associated male ... See more keywords
Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Human Genetics"
DOI: 10.1038/jhg.2016.143
Abstract: Desbuquois dysplasia (DBQD) is an autosomal recessive skeletal disorder characterized by growth retardation, joint laxity, short extremities, and progressive scoliosis. DBQD is classified into two types based on the presence (DBQD1) or absence (DBQD2) of… read more here.
Keywords: two turkish; novel recurrent; turkish families; desbuquois dysplasia ... See more keywords
Novel recurrent mutations and genetic diversity in Sudanese children with Adrenal Insufficiency.
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DOI: 10.1093/ejendo/lvaf037
Abstract: BACKGROUND Studies of Primary Adrenal Insufficiency (PAI) in African children are rare but in Sudan, congenital adrenal hyperplasia (CAH) and Triple A syndrome are the most common genetic causes. Differential diagnosis is challenging, especially in… read more here.
Keywords: insufficiency; diagnosis; novel recurrent; recurrent mutations ... See more keywords
Novel and recurrent variants in PAX6 in four patients with ocular phenotypes from Southeast Asia
Sign Up to like & getrecommendations! Published in 2024 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000487
Abstract: Aniridia is an autosomal dominant condition characterized by the complete or partial absence of the iris, often with additional presentations such as foveal hypoplasia, nystagmus, cataract, glaucoma and other ocular abnormalities. Most cases are caused… read more here.
Keywords: four patients; recurrent variants; novel recurrent; ocular phenotypes ... See more keywords