Orofaciodigital Syndrome 1 Latest Advances

Analysis of OFD1 gene variant in a child with Oral-facial-digital syndrome

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: August 05, 2025

Clinical spectrum of male patients with OFD1 mutations.

Journal: Journal of human genetics

Published: October 01, 2018

Facial comedonal acne in orofaciodigital syndrome type 1 caused by a novel frameshift variant in OFD1.

Journal: Clinical and experimental dermatology

Published: August 31, 2018

Daughter and mother with orofaciodigital syndrome type 1 and glomerulocystic kidney disease.

Journal: Human pathology

Published: October 17, 2015

Familial case of oral-facial-digital syndrome type 1 (OFD 1)

Journal: Przeglad lekarski

Published: July 15, 2014

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.

Journal: Orphanet journal of rare diseases

Published: October 17, 2013

Oral-facial-digital syndrome type I: surgical approach and a case report.

Journal: Journal of plastic, reconstructive & aesthetic surgery : JPRAS

Published: April 30, 2013

Oral-facial-digital syndrome type 1 with hypothalamic hamartoma and Dandy-Walker malformation.

Journal: Pediatric neurology

Published: September 26, 2012

Challenges in genetic counseling because of intra-familial phenotypic variation of oral-facial-digital syndrome type 1.

Journal: Congenital anomalies

Published: May 02, 2012

Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations.

Journal: European journal of human genetics : EJHG

Published: February 23, 2012