Chondrodysplasia, Grebe Type Latest Advances

Find the Latest Research About Chondrodysplasia, Grebe Type

Last Updated: 02/24/2026

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Found 25 publications

A novel variant in BMPR1B causes acromesomelic dysplasia Grebe type in a consanguineous Moroccan family: Expanding the phenotypic and mutational spectrum of acromesomelic dysplasias.

A novel variant in BMPR1B causes acromesomelic dysplasia Grebe type in a consanguineous Moroccan family: Expanding the phenotypic and mutational spectrum of acromesomelic dysplasias.

Journal: Bone

Published: June 05, 2023

A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review.

A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review.

Journal: European journal of medical genetics

Published: September 15, 2020

GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations.

GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations.

Journal: Bone

Published: August 27, 2020

Novel homozygous sequence variants in the GDF5 gene underlie acromesomelic dysplasia type-grebe in consanguineous families.

Novel homozygous sequence variants in the GDF5 gene underlie acromesomelic dysplasia type-grebe in consanguineous families.

Journal: Congenital anomalies

Published: May 28, 2016

Grebe dysplasia - prenatal diagnosis based on rendered 3-D ultrasound images of fetal limbs.

Grebe dysplasia - prenatal diagnosis based on rendered 3-D ultrasound images of fetal limbs.

Journal: Pediatric radiology

Published: May 13, 2016

Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population.

Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population.

Journal: Pakistan journal of medical sciences

Published: February 13, 2016

A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia.

A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia.

Journal: Orphanet journal of rare diseases

Published: March 04, 2015

Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5.

Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5.

Journal: Journal of bone and mineral metabolism

Published: January 27, 2015

Neonatal Death Dwarfism in a Girl with Distinctive Bone Dysplasia Compatible with Grebe Chondrodysplasia: Analysis by CT Scan-based Phenotype.

Neonatal Death Dwarfism in a Girl with Distinctive Bone Dysplasia Compatible with Grebe Chondrodysplasia: Analysis by CT Scan-based Phenotype.

Journal: Journal of clinical imaging science

Published: May 21, 2014

Development and characterization of microsatellite markers for Brazilian four-eyed frogs (genus Pleurodema) endemic to the Caatinga biome.

Development and characterization of microsatellite markers for Brazilian four-eyed frogs (genus Pleurodema) endemic to the Caatinga biome.

Journal: Genetics and molecular research : GMR

Published: March 27, 2014

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.

Journal: European journal of human genetics : EJHG

Published: May 30, 2013

Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family.

Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family.

Journal: Human genetics

Published: April 25, 2013

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Last Updated: 02/24/2026