Results 111 to 120 of about 8,285 (255)
Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia [PDF]
, 2010 Generalised lymphatic dysplasia (GLD) is characterised by extensive peripheral lymphoedema with visceral involvement. In some cases, it presents in utero with hydrops fetalis. Autosomal dominant and recessive inheritance has been reported.
Brice, G +11 more
core +1 more source
Indian Journal of Dermatology, 2008 Olmsted syndrome is a rare disorder characterized by the combination of periorificial, keratotic plaques and bilateral palmoplantar keratoderma. New associated features are being reported. Olmsted syndrome is particularly rare in a female patient, and we
Kumar Pramod, Sharma P, Kar H
doaj
An essential role for LPA signalling in telencephalon development [PDF]
, 2014 Lysophosphatidic acid (LPA) has wide-ranging effects on many different cell types, acting through G-protein-coupled receptors such as LPAR6. We show that Xenopus lpar6 is expressed from late blastulae and is enriched in the mesoderm and dorsal ectoderm ...
Amaya +73 more
core +2 more sources
A clinical and molecular characterisation of CRB1-associated maculopathy [PDF]
, 2018 To date, over 150 disease-associated variants in CRB1 have been described, resulting in a range of retinal disease phenotypes including Leber congenital amaurosis and retinitis pigmentosa.
A Slavotinek +56 more
core +3 more sources
Christ — Siemens — Touraine syndrome (ectodermal anhydrone dysplasia) [PDF]
Саратовский научно-медицинский журнал, 2011 The article is concerned with observation of a child of 3,5 with hereditary Krista — Seimens — Turena syndrome.
Kuznetsova М.А., Karalskaya J.J.
doaj
Analysis of the human diseasome reveals phenotype modules across common, genetic, and infectious diseases [PDF]
, 2014 Phenotypes are the observable characteristics of an organism arising from its response to the environment. Phenotypes associated with engineered and natural genetic variation are widely recorded using phenotype ontologies in model organisms, as are signs
Gkoutos, Georgios V +2 more
core +2 more sources
American Journal of Ophthalmology Case Reports, 2019 Purpose: We describe a unique case of CDH3-related hypotrichosis with juvenile macular dystrophy (HJMD) and DNAH5-related primary ciliary dyskinesia (PCD) with progressive vision loss in a young Indian female without positive family history.
Kenneth C. Fan +8 more
doaj +1 more source
Short Anagen Syndrome: a case study [PDF]
, 2012 Short anagen syndrome is a relatively recently described entity. This syndrome is an unusual condition where the ana-gen growth phase of hair follicles is shorter than normal.
Alés Fernández, Martina +1 more
core +1 more source
Congenital Ciliary Hypotrichosis [PDF]
Ophthalmologica, 1964 R P, SARDA, H, CHARAN, P N, NAGPAUL
openaire +2 more sources
Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp
Journal of dermatology (Print), 2019 Peeling skin disease is a rare genodermatosis characterized by superficial exfoliation or peeling of the skin. Peeling skin disease is caused by biallelic mutations in CDSN as an autosomal recessive trait.
J. V. D. van der Velden +4 more
semanticscholar +1 more source