Results 1 to 10 of about 635 (130)
Journal of Indian Society of Pedodontics and Preventive Dentistry, 2008 Ectodermal dysplasia is a hereditary syndrome characterized by dysplasia of tissues of ectodermal origin (hair, skin, nails, and teeth) and occasionally, dysplasia of mesodermally derived tissues.
Kaul S, Reddy R
doaj
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2519-2524, November 2026.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
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King Khalid University Journal of Health SciencesEctodermal dysplasia is a rare hereditary disorder characterized by the abnormal development of ectodermal tissues. Hidrotic and hypohidrotic ectodermal dysplasia are the two most common types of the disease.
Lujain I. N. Aldosari
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Christ-Siemens-Touraine Syndrome: A Case Report and Review of the Literature
Case Reports in Dentistry, 2012 Ectodermal dysplasia is a rare disorder with defects in two or more of the following structures: the teeth and the skin and its appendages including hair, nails, eccrine, and sebaceous glands.
Sepideh Mokhtari +2 more
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Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum
Clinical Genetics, Volume 110, Issue 5, Page 605-615, November 2026.Pathogenic PORCN variants are compatible with male survival in both mosaic and non‐mosaic states, expanding the FDH/PONGOS spectrum and improving diagnosis and genetic counseling. ABSTRACT Pathogenic variants in PORCN cause focal dermal hypoplasia (FDH/Goltz syndrome), an X‐linked dominant disorder historically considered lethal in males, with milder ...
Lucía Miranda‐Alcaraz +23 more
wiley +1 more source
Linear Cutaneous and Craniofacial Anomalies in a Female Infant
JEADV Clinical Practice, EarlyView.
Kim H. Tran, Kimia Ameri, Joseph M. Lam
wiley +1 more source
Characterisation of human hair follicle development
Journal of Anatomy, Volume 249, Issue 5, Page 1033-1049, November 2026.Schematic of hair follicle development in human skin. Hair follicle primordia of similar sizes, but different densities, are laid out across the skin. The distinction between terminal and vellus hair sites is not obvious at early stages of hair follicle development.
Zoe R. Sudderick +4 more
wiley +1 more source
Journal of Indian Academy of Oral Medicine and Radiology, 2009 Hereditary hypohidrotic ectodermal dysplasia, also called the Christ-Siemens-Touraine Syndrome is characterized by congenital dysplasia of one or more ectodermal structures and is manifested by hypohidrosis, hypotrichosis and hypodontia. It is usually an
Sonia Saggoo +3 more
doaj +1 more source
Case Reports in Dentistry, 2020 Ectrodactyly-ectodermal dysplasia clefting syndrome is a rare genetic disorder characterized by the triad of ectrodactyly-ectodermal dysplasia and facial clefting of lip or palate or both along with some systemic manifestations. Although each defect that
Anamika Bharati +5 more
doaj +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source