Acheiropody Latest Advances

ARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial-to-mesenchymal transition in cranial neural crest specification.

Journal: American journal of human genetics

Published: April 25, 2024

Short Report: 10-year follow-up of a boy with ARID1B-related disorder. Early intervention, longitudinal dimensional phenotype, brain imaging and outcome.

Journal: Research in developmental disabilities

Published: March 08, 2024

Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023).

Journal: American journal of medical genetics. Part A

Published: March 03, 2024

Novel SETBP1 D874V adjacent to the degron causes canonical schinzel-giedion syndrome: a case report and review of the literature.

Journal: BMC pediatrics

Published: November 01, 2023

PHF6 cooperates with SWI/SNF complexes to facilitate transcriptional progression.

Journal: Nature communications

Published: September 27, 2023

Analysis of phenotype and pathogenic variants in a Chinese pedigree affected with Multiple synostoses syndrome type 1

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

Published: August 29, 2023

A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of WNK1.

Journal: Genes

Published: August 17, 2023

Split-hand/foot malformation 3 resulting from microduplications in 10q24 region in five patients from India.

Journal: American journal of medical genetics. Part A

Published: August 03, 2023

Lethal variant in the C2A domain may cause severe SYT1-associated neurodevelopmental disorder in the newborns.

Journal: Neurogenetics

Published: July 07, 2023

A novel PIEZO2 mutation in a fetus from a Chinese family with Gordon syndrome.

Journal: Prenatal diagnosis

Published: June 10, 2023

A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.

Journal: European journal of medical genetics

Published: January 31, 2023

An unusual manifestation of asymmetric polydactyly of both feet and symmetrical polydactyly of both hands.

Journal: Surgical and radiologic anatomy : SRA

Published: September 08, 2022

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ARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial-to-mesenchymal transition in cranial neural crest specification.

ARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial-to-mesenchymal transition in cranial neural crest specification.

Short Report: 10-year follow-up of a boy with ARID1B-related disorder. Early intervention, longitudinal dimensional phenotype, brain imaging and outcome.

Short Report: 10-year follow-up of a boy with ARID1B-related disorder. Early intervention, longitudinal dimensional phenotype, brain imaging and outcome.

Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023).

Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023).

Novel SETBP1 D874V adjacent to the degron causes canonical schinzel-giedion syndrome: a case report and review of the literature.

Novel SETBP1 D874V adjacent to the degron causes canonical schinzel-giedion syndrome: a case report and review of the literature.

PHF6 cooperates with SWI/SNF complexes to facilitate transcriptional progression.

PHF6 cooperates with SWI/SNF complexes to facilitate transcriptional progression.

Analysis of phenotype and pathogenic variants in a Chinese pedigree affected with Multiple synostoses syndrome type 1

Analysis of phenotype and pathogenic variants in a Chinese pedigree affected with Multiple synostoses syndrome type 1

A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of WNK1.

A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of WNK1.

Split-hand/foot malformation 3 resulting from microduplications in 10q24 region in five patients from India.

Split-hand/foot malformation 3 resulting from microduplications in 10q24 region in five patients from India.

Lethal variant in the C2A domain may cause severe SYT1-associated neurodevelopmental disorder in the newborns.

Lethal variant in the C2A domain may cause severe SYT1-associated neurodevelopmental disorder in the newborns.

A novel PIEZO2 mutation in a fetus from a Chinese family with Gordon syndrome.

A novel PIEZO2 mutation in a fetus from a Chinese family with Gordon syndrome.

A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.

A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.

An unusual manifestation of asymmetric polydactyly of both feet and symmetrical polydactyly of both hands.

An unusual manifestation of asymmetric polydactyly of both feet and symmetrical polydactyly of both hands.