Orofaciodigital Syndrome 6 Latest Advances

Bilateral lipomatous hamartoma of the tongue: A case report in a child with oral-facial-digital syndrome type VI.

Journal: Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry

Published: November 06, 2023

Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review.

Journal: Prenatal diagnosis

Published: March 22, 2019

INTU-related oral-facial-digital syndrome type VI: A confirmatory report.

Journal: Clinical genetics

Published: December 29, 2017

Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.

Journal: European journal of medical genetics

Published: June 30, 2017

Surgically Induced Necrotizing Scleritis Following Strabismus Surgery Treated Successfully with Topical N-acetylcysteine in a Child with Congenital Fibrosis of Extraocular Muscles and Varadi Papp Syndrome.

Journal: Strabismus

Published: February 01, 2017

Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI).

Journal: American journal of medical genetics. Part A

Published: December 03, 2016

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.

Journal: Journal of medical genetics

Published: February 10, 2016

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone.

Journal: PLoS biology

Published: July 16, 2015

Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.

Journal: American journal of medical genetics. Part A

Published: February 14, 2015

Association of oral-facial-digital syndrome type VI (Varadi-Papp syndrome) with optochiasmatic pilocytic astrocytoma.

Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

Published: August 18, 2014

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

Journal: Human genetics

Published: July 30, 2014

C5orf42 is the major gene responsible for OFD syndrome type VI.

Journal: Human genetics

Published: July 23, 2013

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Bilateral lipomatous hamartoma of the tongue: A case report in a child with oral-facial-digital syndrome type VI.

Bilateral lipomatous hamartoma of the tongue: A case report in a child with oral-facial-digital syndrome type VI.

Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review.

Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review.

INTU-related oral-facial-digital syndrome type VI: A confirmatory report.

INTU-related oral-facial-digital syndrome type VI: A confirmatory report.

Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.

Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.

Surgically Induced Necrotizing Scleritis Following Strabismus Surgery Treated Successfully with Topical N-acetylcysteine in a Child with Congenital Fibrosis of Extraocular Muscles and Varadi Papp Syndrome.

Surgically Induced Necrotizing Scleritis Following Strabismus Surgery Treated Successfully with Topical N-acetylcysteine in a Child with Congenital Fibrosis of Extraocular Muscles and Varadi Papp Syndrome.

Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI).

Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI).

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone.

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone.

Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.

Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.

Association of oral-facial-digital syndrome type VI (Varadi-Papp syndrome) with optochiasmatic pilocytic astrocytoma.

Association of oral-facial-digital syndrome type VI (Varadi-Papp syndrome) with optochiasmatic pilocytic astrocytoma.

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

C5orf42 is the major gene responsible for OFD syndrome type VI.

C5orf42 is the major gene responsible for OFD syndrome type VI.