X-linked dominant RPGR gene mutation in a familial Coats angiomatosis
Sign Up to like & getrecommendations! Published in 2021 at "BMC Ophthalmology"
DOI: 10.1186/s12886-020-01791-5
Abstract: Background Retinitis Pigmentosa (RP) is the most frequent retinal hereditary disease and every kind of transmission pattern has been described. The genetic etiology of RP is extremely heterogeneous and in the last few years the… read more here.
Keywords: rpgr gene; family; dominant rpgr; linked dominant ... See more keywords
Genetic analysis of three families with X-linked dominant hypophosphatemic rickets
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2017-0451
Abstract: Abstract Background Hypophosphatemic rickets, including familial hypophosphatemic vitamin D-resistant rickets, which commonly manifests in childhood, is generally hereditary. X-linked dominant hypophosphatemic rickets (XLH, MIM307800), caused by inactivating mutations in the PHEX gene, is the most… read more here.
Keywords: dominant hypophosphatemic; analysis; analysis three; hypophosphatemic rickets ... See more keywords
Incontinentia pigmenti, an x-linked dominant disorder, in a 2-year-old boy with Klinefelter syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Indian Journal of Pathology and Microbiology"
DOI: 10.4103/ijpm.ijpm_91_16
Abstract: Incontinentia pigmenti (IP) is a rare X-linked dominant disorder, in which skin lesions distributed along Blaschko's lines appear shortly after birth. Early lesions which are erythematous/bullous evolve over time into warty lesions, hyperpigmented swirls/macules, and… read more here.
Keywords: klinefelter syndrome; old boy; incontinentia pigmenti; dominant disorder ... See more keywords