Results 111 to 120 of about 168,874 (283)

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Edwin Cuperus, Michel van Geel, Virginie JM Verhoeven, Suzanne M Koudijs, Gerharda H Boerman, Angela M Tjiam, N Margreth van der Lugt, Suzanne GMA Pasmans   +7 more
wiley   +1 more source

Genotype–Phenotype Correlation in TTC7A ‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff, Hans Christian Schmidt, Matthias Hans Belau, Johanna Hagens, Mario Lange, Daniel Tegtmeyer, Konrad Reinshagen, Frederike Leonie Harms, Christian Tomuschat   +8 more
wiley   +1 more source

Auto-percepção dos portadores de Amelogênese Imperfeita e Displasia [PDF]

, 2012
TCC (graduação) - Universidade Federal de Santa Catarina. Centro de Ciências da Saúde. Odontologia.A Amelogênese Imperfeita é um distúrbio hereditário caracterizado pela formação anormal de esmalte, o que gera dentes com alteração de cor, sensibilidade e
Klita, Ana Paula Haisi
core  

Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Poland Anomaly is a rare congenital disorder typically characterized by hypoplasia or agenesis of pectoral muscle with or without ipsilateral limb hypoplasia. The association of central nervous system malformation with Poland Anomaly has been rarely reported and includes craniofacial dysplasia, microcephaly, and Dandy‐Walker malformation ...
Alessandra Greta Grassi, Silvia Pontesilli, Laura Demelas, Francesca Vigliani, Massimo Agosti, Angelo Selicorni   +5 more
wiley   +1 more source

A Splice Defect in the EDA Gene in Dogs with an X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Phenotype

G3: Genes, Genomes, Genetics, 2016
X-linked hypohidrotic ectodermal dysplasia (XLHED) caused by variants in the EDA gene represents the most common ectodermal dysplasia in humans. We investigated three male mixed-breed dogs with an ectodermal dysplasia phenotype characterized by marked ...
Dominik P Waluk, G. Zur, R. Kaufmann, M. Welle, V. Jagannathan, C. Drögemüller, E. Müller, T. Leeb, A. Galichet   +8 more
semanticscholar   +1 more source

Contribution of polymorphisms in genes associated with craniofacial development to the risk of nonsyndromic cleft lip and/or palate in the Brazilian population [PDF]

, 2013
Background and Objective: Nonsyndromic cleft lip and/or palate (NSCL/P) is a complex disease associated with both genetic and environmental factors. One strategy for identifying of possible NSCL/P genetic causes is to evaluate polymorphic variants in ...
Aquino, Sibele Nascimento de, Brito, Luciano Abreu, Bufalino, Andreia, Della Coletta, Ricardo, Graner, Edgard, Martelli Júnior, Hercílio, Paranaíba, Lívia M. R., Passos Bueno e, Maria Rita dos Santos, Swerts, Mário Sérgio Oliveira   +8 more
core   +1 more source

Genetic basis of dental agenesis - molecular genetics patterning clinical dentistry [PDF]

, 2013
Tooth agenesis is one of the most common congenital malformations in humans. Hypodontia can either occur as an isolated condition (non-syndromic hypodontia) or can be associated with a syndrome (syndromic hypodontia), highlighting the heterogeneity of ...
Chhabra, Anuj, Chhabra, Nidhi, Goswami, Mridula   +2 more
core   +1 more source

Ectodermal Dysplasia with Amastia: A Case of One-Step Reconstruction

Case Reports in Medicine, 2009
Background. Female patients presenting amastia associated with ectodermal dysplasia are not frequently encountered, but they are of great clinical interest and surgically demanding.
M. Klinger, F. Caviggioli, B. Banzatti, C. Fossati, F. Villani   +4 more
doaj   +1 more source

Ectodermal Dysplasia: A Rare Case Report

, 2022
Omran Soleman
openalex   +1 more source

Holoprosencephaly in an Egyptian baby with ectrodactyly-ectodermal dysplasia-cleft syndrome: a case report

Journal of Medical Case Reports, 2012
Introduction Ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome (OMIM No. 129900) is characterized by the triad of ectrodactyly, ectodermal dysplasia and facial clefting (of the lip and/or palate).
Metwalley Kalil Kotb, Fargalley Hekma
doaj   +1 more source