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About 133 results

ALLMedicine™ Robinow Syndrome Center

Research & Reviews  53 results

A novel frameshift mutation of DVL1-induced Robinow syndrome: A case report and literat...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8922971
Molecular Genetics & Genomic Medicine; Hu R, Qiu Y et. al.

Feb 10th, 2022 - Robinow syndrome is a rare genetic disorder that affects the development of multiple systems. Due to its low prevalence and diversity of phenotypic presentation it has been challenging to definitively characterize features of Robinow syndrome. We ...

A novel variant in WNT5A responsible for Robinow syndrome in a male fetus with limb sho...
https://doi.org/10.1097/MCD.0000000000000401
Clinical Dysmorphology; Zhu H, Chen Y et. al.

Nov 10th, 2021 - A novel variant in WNT5A responsible for Robinow syndrome in a male fetus with limb shortening and agenesis of the penis.|2021|Zhu H,Chen Y,Niu Y,Zhang Y,Chen L,|

A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic tra...
https://doi.org/10.1002/ajmg.a.62514
American Journal of Medical Genetics. Part A; Malik S, Nalbant G et. al.

Sep 28th, 2021 - We present five members of a consanguineous Pakistani kinship with the most severe familial tetramelic transverse autopod deficiency reported to date and additionally having some of the common autosomal recessive Robinow syndrome-1 (RRS1) features...

Robinow syndrome in an extremely preterm infant: Novel homozygous ROR2 variant detected...
https://doi.org/10.1002/ajmg.a.62499
American Journal of Medical Genetics. Part A; McDermott H, Robinson HK et. al.

Sep 25th, 2021 - An extremely preterm infant presented with clinical and radiological features of Robinow syndrome including butterfly vertebrae, posterior rib fusion, brachydactyly, nail hypoplasia, and retromicrognathia resulting in difficult endotracheal intuba...

Chondrocyte Polarity During Endochondral Ossification Requires Protein-Protein Interact...
https://doi.org/10.1002/jbmr.4428
Journal of Bone and Mineral Research : the Official Journ... Wan Y, Szabo-Rogers HL

Aug 24th, 2021 - The expansion and growth of the endochondral skeleton requires organized cell behaviors that control chondrocyte maturation and oriented division. In other organs, these processes are accomplished through Wnt/planar cell polarity (Wnt/PCP) signali...

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