Identification of a novel microdeletion causative of Nance‐Horan syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1879
Abstract: Nance‐Horan syndrome (NHS) is a rare X‐linked genetic disorder characterized by ophthalmologic and dental anomalies as well as dysmorphic facies. The clinical phenotype in males includes congenital cataracts, vision loss, microcornea, nystagmus, microphthalmia, glaucoma, screwdriver… read more here.
Keywords: nance horan; horan syndrome; identification novel; novel microdeletion ... See more keywords
Nance–Horan syndrome pedigree due to a novel microdeletion and skewed X chromosome inactivation
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2100
Abstract: Nance–Horan syndrome (NHS) is a rare and often overlooked X‐linked dominant disorder characterized by dense congenital cataracts, dental abnormalities, and mental retardation. The majority of NHS variations include frameshift mutations, nonsense mutations, microdeletions, and insertions. read more here.
Keywords: horan syndrome; syndrome pedigree; nance horan; pedigree due ... See more keywords
NHS Gene Mutations in Ashkenazi Jewish Families with Nance–Horan Syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Current Eye Research"
DOI: 10.1080/02713683.2017.1304560
Abstract: ABSTRACT Purpose: To describe ocular and extraocular abnormalities in two Ashkenazi Jewish families with infantile cataract and X-linked inheritance, and to identify their underlying mutations. Methods: Seven affected members were recruited. Medical history, clinical findings,… read more here.
Keywords: horan syndrome; nhs gene; ashkenazi jewish; jewish families ... See more keywords
Nance–Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature
Sign Up to like & getrecommendations! Published in 2018 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2017.1363245
Abstract: ABSTRACT The Nance–Horan syndrome is an X-linked disorder characterized by congenital cataract, facial features, microcornea, microphthalmia, and dental anomalies; most of the cases are due to NHS gene mutations on Xp22.13. Heterozygous carrier females generally… read more here.
Keywords: horan syndrome; nhs gene; balanced translocation; nance horan ... See more keywords
A novel Nance-Horan syndrome mutation identified by next-generation sequencing in a Chinese family.
Sign Up to like & getrecommendations! Published in 2022 at "International journal of ophthalmology"
DOI: 10.18240/ijo.2022.06.22
Abstract: AIM To identify the disease-causing mutation in a four-generation Chinese family diagnosed with Nance-Horan syndrome (NHS). METHODS A Chinese family, including four affected patients and four healthy siblings, was recruited. All family members received ophthalmic… read more here.
Keywords: horan syndrome; family; nance horan; generation ... See more keywords
Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome
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DOI: 10.3390/brainsci11091150
Abstract: Nance-Horan syndrome (NHS) is a rare X-linked developmental disorder caused mainly by loss of function variants in the NHS gene. NHS is characterized by congenital cataracts, dental anomalies, and distinctive facial features, and a proportion… read more here.
Keywords: horan syndrome; prominent regressive; regressive brain; brain ... See more keywords
A novel NHS mutation in a Chinese family with Nance‑Horan Syndrome.
Sign Up to like & getrecommendations! Published in 2019 at "Molecular medicine reports"
DOI: 10.3892/mmr.2019.10106
Abstract: Nance‑Horan syndrome (NHS) is a rare X‑linked disorder with various clinical manifestations. The present study aimed to identify the pathogenic mutation causing NHS in a three‑generation Chinese family with 4 individuals presenting primarily with congenital… read more here.
Keywords: horan syndrome; chinese family; family; novel nhs ... See more keywords