Miller Syndrome Latest Advances

Two cases of Coffin-Siris syndrome type 3 caused by de novoSMARCB1 gene mutations

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: July 22, 2025

SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.

Journal: Familial cancer

Published: June 04, 2025

Evaluating the consistency of SMARCB1 variant classification and assertions of genotype-phenotype relationships in ClinVar.

Journal: Cancer genetics

Published: February 27, 2025

Using the Fluorescence In Situ Hybridization in the Diagnosis of Trisomy 13 in a Male Newborn From Mali.

Journal: Clinical case reports

Published: December 30, 2024

A novel mutation in SMARCB1 associated with adult Coffin-Siris syndrome and meningioma.

Journal: Acta biochimica et biophysica Sinica

Published: November 20, 2024

Systematic phenotype and genotype characterization of Moebius syndrome.

Journal: Genetics in medicine open

Published: November 05, 2024

Genetic analysis of a fetus with Coffin-Siris syndrome 2 due to a novel variant of ARID1A gene

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

Published: September 30, 2024

Two-dimensional and three-dimensional ultrasonographic diagnosis of congenital auricular anomalies.

Journal: Frontiers in medicine

Published: September 24, 2024

Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.

Journal: Clinical genetics

Published: September 23, 2024

First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van den Ende-Gupta and 22q11.2 Deletion Syndromes.

Journal: Molecular genetics & genomic medicine

Published: August 27, 2024

First report of Coffin-Siris Syndrome with SMARCB1 variant, normal intelligence and mild selective neuropsychological deficits: A case report and literature review.

Journal: The Clinical neuropsychologist

Published: July 04, 2024

A rare Coffin-Siris syndrome induced by SOX11: a de novo nonsense variant of short stature.

Journal: BMC medical genomics

Published: May 04, 2024

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Two cases of Coffin-Siris syndrome type 3 caused by de novoSMARCB1 gene mutations

Two cases of Coffin-Siris syndrome type 3 caused by de novoSMARCB1 gene mutations

SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.

SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.

Evaluating the consistency of SMARCB1 variant classification and assertions of genotype-phenotype relationships in ClinVar.

Evaluating the consistency of SMARCB1 variant classification and assertions of genotype-phenotype relationships in ClinVar.

Using the Fluorescence In Situ Hybridization in the Diagnosis of Trisomy 13 in a Male Newborn From Mali.

Using the Fluorescence In Situ Hybridization in the Diagnosis of Trisomy 13 in a Male Newborn From Mali.

A novel mutation in SMARCB1 associated with adult Coffin-Siris syndrome and meningioma.

A novel mutation in SMARCB1 associated with adult Coffin-Siris syndrome and meningioma.

Systematic phenotype and genotype characterization of Moebius syndrome.

Systematic phenotype and genotype characterization of Moebius syndrome.

Genetic analysis of a fetus with Coffin-Siris syndrome 2 due to a novel variant of ARID1A gene

Genetic analysis of a fetus with Coffin-Siris syndrome 2 due to a novel variant of ARID1A gene

Two-dimensional and three-dimensional ultrasonographic diagnosis of congenital auricular anomalies.

Two-dimensional and three-dimensional ultrasonographic diagnosis of congenital auricular anomalies.

Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.

Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.

First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van den Ende-Gupta and 22q11.2 Deletion Syndromes.

First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van den Ende-Gupta and 22q11.2 Deletion Syndromes.

First report of Coffin-Siris Syndrome with SMARCB1 variant, normal intelligence and mild selective neuropsychological deficits: A case report and literature review.

First report of Coffin-Siris Syndrome with SMARCB1 variant, normal intelligence and mild selective neuropsychological deficits: A case report and literature review.

A rare Coffin-Siris syndrome induced by SOX11: a de novo nonsense variant of short stature.

A rare Coffin-Siris syndrome induced by SOX11: a de novo nonsense variant of short stature.