Autosomal Cleft Palate Latest Advances

Novel variants in STAG2 and PKD1 associate with multiple congenital malformations and autosomal dominant polycystic kidney disease in a Chinese family: A case report and literature review.

Journal: Experimental and therapeutic medicine

Published: June 06, 2025

Familial Oculoauriculovertebral Spectrum: A Genomic Investigation of Autosomal Dominant Inheritance.

Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

Published: January 17, 2025

Exome analyses unravel the genetic architecture of Mendelian dominant nonsyndromic orofacial clefts.

Journal: Genomics

Published: July 10, 2024

Dominant Stickler Syndrome.

Journal: Genes

Published: June 02, 2022

Further Evidence of a Continuum in the Clinical Spectrum of Dominant PIEZO2-Related Disorders and Implications in Cerebellar Anomalies.

Journal: Molecular syndromology

Published: January 09, 2022

TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.

Journal: Human molecular genetics

Published: March 24, 2020

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.

Journal: Human molecular genetics

Published: January 18, 2020

Familial autosomal dominant severe ankyloglossia with tooth abnormalities.

Journal: American journal of medical genetics. Part A

Published: August 02, 2017

Investigation of dominant and recessive inheritance models in genome-wide association studies data of nonsyndromic cleft lip with or without cleft palate.

Journal: Birth defects research

Published: June 29, 2017

A dominant negative FGFR1 mutation identified in a Kallmann syndrome patient.

Journal: Gene

Published: February 15, 2017

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

Journal: American journal of medical genetics. Part A

Published: January 22, 2017

Three cases of Gordon syndrome with dominant KLHL3 mutations.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: August 06, 2016

Autosomal Cleft Palate Latest Advances

Find the Latest Research About Autosomal Cleft Palate

Novel variants in STAG2 and PKD1 associate with multiple congenital malformations and autosomal dominant polycystic kidney disease in a Chinese family: A case report and literature review.

Novel variants in STAG2 and PKD1 associate with multiple congenital malformations and autosomal dominant polycystic kidney disease in a Chinese family: A case report and literature review.

Familial Oculoauriculovertebral Spectrum: A Genomic Investigation of Autosomal Dominant Inheritance.

Familial Oculoauriculovertebral Spectrum: A Genomic Investigation of Autosomal Dominant Inheritance.

Exome analyses unravel the genetic architecture of Mendelian dominant nonsyndromic orofacial clefts.

Exome analyses unravel the genetic architecture of Mendelian dominant nonsyndromic orofacial clefts.

Dominant Stickler Syndrome.

Dominant Stickler Syndrome.

Further Evidence of a Continuum in the Clinical Spectrum of Dominant PIEZO2-Related Disorders and Implications in Cerebellar Anomalies.

Further Evidence of a Continuum in the Clinical Spectrum of Dominant PIEZO2-Related Disorders and Implications in Cerebellar Anomalies.

TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.

TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.

Familial autosomal dominant severe ankyloglossia with tooth abnormalities.

Familial autosomal dominant severe ankyloglossia with tooth abnormalities.

Investigation of dominant and recessive inheritance models in genome-wide association studies data of nonsyndromic cleft lip with or without cleft palate.

Investigation of dominant and recessive inheritance models in genome-wide association studies data of nonsyndromic cleft lip with or without cleft palate.

A dominant negative FGFR1 mutation identified in a Kallmann syndrome patient.

A dominant negative FGFR1 mutation identified in a Kallmann syndrome patient.

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

Three cases of Gordon syndrome with dominant KLHL3 mutations.

Three cases of Gordon syndrome with dominant KLHL3 mutations.