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ALLMedicine™ Achondrogenesis Type 1b Center

Research & Reviews  4 results

Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogen...
https://doi.org/10.1002/ajmg.a.61469
American Journal of Medical Genetics. Part A; Sato T, Kojima T et. al.

Dec 27th, 2019 - We present two unrelated Japanese pedigrees with achondrogenesis type 1b (ACG1B), characterized by prenatally lethal fetal hydrops and severe micromelia. The affected members in these pedigrees carried a common homozygous missense point mutation i...

Achondrogenesis Type 1B - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/achon1b/

Nov 13th, 2013 - Clinical features of achondrogenesis type 1B (ACG1B) include extremely short limbs with short fingers and toes, hypoplasia of the thorax, protuberant abdomen, and hydropic fetal appearance caused by the abundance of soft tissue relative to the sho...

Achondrogenesis type 1B
https://rarediseases.info.nih.gov/diseases/460/achondrogenesis-type-1b

Oct 17th, 2013 - Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, short arms and legs, and other skeletal abnormalities that cause l...

Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese popu...
https://doi.org/10.1111/j.1399-0004.2010.01595.x
Clinical Genetics; Barbosa M, Sousa AB et. al.

Dec 15th, 2010 - SLC26A2-related dysplasias encompass a spectrum of diseases: from lethal achondrogenesis type 1B (ACG1B; MIM #600972) and atelosteogenesis type 2 (AO2; MIM #256050) to classical diastrophic dysplasia (cDTD; MIM #222600) and recessive multiple epip...

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Clinicaltrials.gov  4 results

Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogen...
https://doi.org/10.1002/ajmg.a.61469
American Journal of Medical Genetics. Part A; Sato T, Kojima T et. al.

Dec 27th, 2019 - We present two unrelated Japanese pedigrees with achondrogenesis type 1b (ACG1B), characterized by prenatally lethal fetal hydrops and severe micromelia. The affected members in these pedigrees carried a common homozygous missense point mutation i...

Achondrogenesis Type 1B - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/achon1b/

Nov 13th, 2013 - Clinical features of achondrogenesis type 1B (ACG1B) include extremely short limbs with short fingers and toes, hypoplasia of the thorax, protuberant abdomen, and hydropic fetal appearance caused by the abundance of soft tissue relative to the sho...

Achondrogenesis type 1B
https://rarediseases.info.nih.gov/diseases/460/achondrogenesis-type-1b

Oct 17th, 2013 - Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, short arms and legs, and other skeletal abnormalities that cause l...

Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese popu...
https://doi.org/10.1111/j.1399-0004.2010.01595.x
Clinical Genetics; Barbosa M, Sousa AB et. al.

Dec 15th, 2010 - SLC26A2-related dysplasias encompass a spectrum of diseases: from lethal achondrogenesis type 1B (ACG1B; MIM #600972) and atelosteogenesis type 2 (AO2; MIM #256050) to classical diastrophic dysplasia (cDTD; MIM #222600) and recessive multiple epip...

see more →