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ALLMedicine™ Achondrogenesis Center

Research & Reviews  32 results

Achondrogenesis Type 1B - GeneReviews® - NCBI Bookshelf

Jun 9th, 2022 - 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...

Novel deep intronic and frameshift mutations causing a TRIP11-related disorder.
American Journal of Medical Genetics. Part A; Qian Y, Hu G et. al.

May 21st, 2021 - Mutations of the thyroid hormone receptor interactor 11 gene (TRIP11, OMIM: 604505) at 14q32.12 have been associated with the autosomal recessive achondrogenesis type IA (ACG1A, OMIM: 200600) or osteochondrodysplasia (ODCD, OMIM: 184260). In this ...

Description of four patients with TRIP11 variants expand the clinical spectrum of odont...
European Journal of Medical Genetics; Del Pino M, Sanchez-Soler MJ et. al.

Mar 23rd, 2021 - More than two decades since the first clinical and radiological description of odontochondroplasia (ODCD) was reported, biallelic loss of function variants in the Thyroid hormone receptor interactor 11 gene (TRIP11) were identified, the same gene ...

Hypochondrogenesis: A pictorial assay combining ultrasound, MRI and low-dose computeriz...
Clinical Imaging; Bisht RU, Belthur MV et. al.

Oct 19th, 2020 - We present a case of hypochondrogenesis, a rare autosomal dominant skeletal dysplasia that often results in infant death shortly after birth. Hypochondrogenesis can present similarly to other skeletal dysplasia diseases, notably achondrogenesis ty...

Achondroplasia Imaging

Apr 18th, 2020 - Practice Essentials Achondroplasia is an inherited disorder of bone growth that causes the most common type of dwarfism [1] and belongs to one of the groups of disorders collectively called chondrodystrophies. Achondroplasia is the most common for...

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News  1 results

Peering into My Own Genome

Aug 16th, 2015 - I have looked into my genome and seen ... nothing much to worry about. I carry 15 rare genetic variants that have been associated with some form of disease, but I am heterozygous for all of them -- I have one intact copy of the same gene. So I car...

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