Are the oral‐facial‐digital syndromes ciliopathies?
HV Toriello - American Journal of Medical Genetics Part A, 2009 - Wiley Online Library
The first oral‐facial‐digital syndrome was described in 1941 by Mohr, followed by a report by
Papillon‐Léage and Psaume [Papillon‐Léage and Psaume (1954); Rev Stomatol (Paris) 55 …
Papillon‐Léage and Psaume [Papillon‐Léage and Psaume (1954); Rev Stomatol (Paris) 55 …
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome
Purpose Oral-facial-digital (OFD) syndromes are genetically heterogeneous developmental
disorders, caused by pathogenic variants in genes involved in primary cilia formation and …
disorders, caused by pathogenic variants in genes involved in primary cilia formation and …
The Fuzzy planar cell polarity protein (FUZ), necessary for primary cilium formation, is essential for pituitary development
The primary cilium is an essential organelle that is important for normal cell signalling during
development and homeostasis but its role in pituitary development has not been reported …
development and homeostasis but its role in pituitary development has not been reported …
A novel pathogenic variant in OFD1 results in X‐linked Joubert syndrome with orofaciodigital features and pituitary aplasia
D Aljeaid, RC Lombardo, DP Witte… - American Journal of …, 2019 - Wiley Online Library
Orofaciodigital syndrome type I and X‐linked recessive Joubert syndrome are known
ciliopathic disorders that are caused by pathogenic variants in OFD1 gene. Endocrine …
ciliopathic disorders that are caused by pathogenic variants in OFD1 gene. Endocrine …
The oral–facial–digital syndromes
JR Siebert - Handbook of Clinical Neurology, 2007 - Elsevier
Publisher Summary Malformations in oral–facial–digital syndrome (OFDS) commonly
involve the oral, facial, and digital regions. The association of specific anomalies and …
involve the oral, facial, and digital regions. The association of specific anomalies and …