Oral-Facial-Digital Syndrome Type 1: Oral Findings in a 6-Year-Old Girl.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of pediatric genetics"
DOI: 10.1055/s-0037-1618601
Abstract: Oral-facial-digital syndrome (OFDS) is a group of congenital anomalies with 13 different forms. OFDS type 1 (OFDS1) is a developmental genetic anomaly related to the X chromosome, that is often seen in girls, and affects… read more here.
Keywords: digital syndrome; findings year; oral facial; facial digital ... See more keywords
Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2016-104436
Abstract: Oral–facial–digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others) to delineate a growing list… read more here.
Keywords: years research; oral facial; digital syndromes; fifteen years ... See more keywords
Oral-Facial-Digital Syndrome Type 1: A Case Report and Review
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Dermatology"
DOI: 10.5021/ad.2022.34.2.132
Abstract: Oral-facial-digital syndrome type 1 (OFD1), first described by Papillon-Léage in 1954, is transmitted as an X-linked dominant condition and is characterized by a combination of malformations in the face, oral cavity, and digits. Malformations of… read more here.
Keywords: facial digital; syndrome type; oral facial; digital syndrome ... See more keywords