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Last Updated: 10/31/2025
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Found 16 publications
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
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
Physical and dental manifestations of oral-facial-digital syndrome type I.
Journal: Journal of the Indian Society of Pedodontics and Preventive Dentistry
Published: December 16, 2011
Last Updated: 10/31/2025