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Last Updated: 10/31/2025

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Found 16 publications

PBL teaching design of medical genetics with the case of brachydactyly type A2.

PBL teaching design of medical genetics with the case of brachydactyly type A2.

Journal: Yi chuan = Hereditas
Published: March 17, 2023

Functional analysis of the long-range regulatory element of BMP2 gene.

Functional analysis of the long-range regulatory element of BMP2 gene.

Journal: Yi chuan = Hereditas
Published: March 17, 2023

A 6.3 Mb maternally derived microduplication of 20p13p12.2 in a fetus with Brachydactyly type D and related literature review.

A 6.3 Mb maternally derived microduplication of 20p13p12.2 in a fetus with Brachydactyly type D and related literature review.

Journal: Molecular cytogenetics
Published: October 23, 2021

BMPR1B gene in brachydactyly type 2-A family with de novo R486W mutation and a disease phenotype.

BMPR1B gene in brachydactyly type 2-A family with de novo R486W mutation and a disease phenotype.

Journal: Molecular genetics & genomic medicine
Published: October 21, 2020

A novel duplication downstream of BMP2 in a Chinese family with Brachydactyly type A2 (BDA2).

A novel duplication downstream of BMP2 in a Chinese family with Brachydactyly type A2 (BDA2).

Journal: Gene
Published: September 22, 2017

Novel mutation in the BMPR1B gene (R486L) in a Polish family and further delineation of the phenotypic features of BMPR1B-related brachydactyly.

Novel mutation in the BMPR1B gene (R486L) in a Polish family and further delineation of the phenotypic features of BMPR1B-related brachydactyly.

Journal: Birth defects research. Part A, Clinical and molecular teratology
Published: March 18, 2015

Identification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2).

Identification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2).

Journal: PloS one
Published: September 24, 2013

A 4.6 kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family.

A 4.6 kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family.

Journal: Journal of medical genetics
Published: March 02, 2011

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

Journal: American journal of human genetics
Published: January 14, 2009

Brachydactyly type A2 associated with a defect in proGDF5 processing.

Brachydactyly type A2 associated with a defect in proGDF5 processing.

Journal: Human molecular genetics
Published: January 22, 2008

A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.

A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.

Journal: European journal of human genetics : EJHG
Published: September 08, 2006

A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2.

A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2.

Journal: Journal of medical genetics
Published: July 15, 2005
Showing 1-12 of 16

Last Updated: 10/31/2025