Char Syndrome Latest Advances

Clinical characteristics and genetic analysis of a child with Char syndrome caused by TFAP2B gene variant

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

Published: August 03, 2024

Coexistence of Rare Genetic Disorders in a Consanguineous Family: Case Study of KLHL24-Related Hypertrophic Cardiomyopathy and Char Syndrome.

Journal: Molecular syndromology

Published: June 19, 2024

Human Genetics of Ventricular Septal Defect.

Journal: Advances in experimental medicine and biology

Published: June 17, 2024

Research progress of genetic research on Char syndrome

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

Published: May 31, 2024

TFAP2 paralogs regulate midfacial development in part through a conserved ALX genetic pathway.

Journal: bioRxiv : the preprint server for biology

Published: July 03, 2023

TFAP2 paralogs regulate midfacial development in part through a conserved ALX genetic pathway.

Journal: Development (Cambridge, England)

Published: June 16, 2023

Transcription factor AP-2beta in development, differentiation and tumorigenesis.

Journal: International journal of cancer

Published: October 21, 2020

Sleep Architecture in Mice Is Shaped by the Transcription Factor AP-2β.

Journal: Genetics

Published: June 13, 2020

KCTD1 mutants in scalp‑ear‑nipple syndrome and AP‑2α P59A in Char syndrome reciprocally abrogate their interactions, but can regulate Wnt/β‑catenin signaling.

Journal: Molecular medicine reports

Published: June 19, 2019

A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus.

Journal: American journal of medical genetics. Part A

Published: January 08, 2019

Char Syndrome a novel mutation and new insights: A clinical report.

Journal: European journal of medical genetics

Published: October 17, 2018

A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics.

Journal: Clinical dysmorphology

Published: April 24, 2018

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Clinical characteristics and genetic analysis of a child with Char syndrome caused by TFAP2B gene variant

Clinical characteristics and genetic analysis of a child with Char syndrome caused by TFAP2B gene variant

Coexistence of Rare Genetic Disorders in a Consanguineous Family: Case Study of KLHL24-Related Hypertrophic Cardiomyopathy and Char Syndrome.

Coexistence of Rare Genetic Disorders in a Consanguineous Family: Case Study of KLHL24-Related Hypertrophic Cardiomyopathy and Char Syndrome.

Human Genetics of Ventricular Septal Defect.

Human Genetics of Ventricular Septal Defect.

Research progress of genetic research on Char syndrome

Research progress of genetic research on Char syndrome

TFAP2 paralogs regulate midfacial development in part through a conserved ALX genetic pathway.

TFAP2 paralogs regulate midfacial development in part through a conserved ALX genetic pathway.

TFAP2 paralogs regulate midfacial development in part through a conserved ALX genetic pathway.

TFAP2 paralogs regulate midfacial development in part through a conserved ALX genetic pathway.

Transcription factor AP-2beta in development, differentiation and tumorigenesis.

Transcription factor AP-2beta in development, differentiation and tumorigenesis.

Sleep Architecture in Mice Is Shaped by the Transcription Factor AP-2β.

Sleep Architecture in Mice Is Shaped by the Transcription Factor AP-2β.

KCTD1 mutants in scalp‑ear‑nipple syndrome and AP‑2α P59A in Char syndrome reciprocally abrogate their interactions, but can regulate Wnt/β‑catenin signaling.

KCTD1 mutants in scalp‑ear‑nipple syndrome and AP‑2α P59A in Char syndrome reciprocally abrogate their interactions, but can regulate Wnt/β‑catenin signaling.

A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus.

A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus.

Char Syndrome a novel mutation and new insights: A clinical report.

Char Syndrome a novel mutation and new insights: A clinical report.

A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics.

A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics.