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About 113 results

ALLMedicine™ Adams-oliver Syndrome Center

Research & Reviews  45 results

A novel DLL4 mutation in Adams-Oliver syndrome with absence of the right pulmonary arte...
https://doi.org/10.1002/ajmg.a.62562
American Journal of Medical Genetics. Part A; Rojnueangnit K, Phawan T et. al.

Nov 11th, 2021 - Adams-Oliver syndrome (AOS), a rare inherited disorder, is characterized by scalp and terminal limb defects. Several genes associated with Notch pathway mutations have led to AOS. Here, we report a Thai male newborn presenting with aplasia cutis c...

Case report and review of literature of a rare congenital disorder: Adams-Oliver syndrome.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8048247
BMC Anesthesiology; Suarez E, Bertoli MJ et. al.

Apr 17th, 2021 - Adams-Oliver syndrome is characterized by the combination of congenital scalp defects and terminal transverse limb defects. In some instances, cardiovascular malformations and orofacial malformations have been observed. Little is written with rega...

Two AOS genes attributed to familial exudative vitreoretinopathy with microcephaly: Two...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7939203
Medicine Tao Z, Bu S et. al.

Mar 4th, 2021 - Familial exudative vitreoretinopathy (FEVR) is an inherited disorder, which is mostly reported to be associated with the mutation of genes involved in the Wnt signaling pathway related to β-catenin. To the best of our knowledge, the involvement of...

Proliferative Retinopathy in a 13-Year-Old with Adams-Oliver Syndrome.
https://doi.org/10.1097/ICB.0000000000001073
Retinal Cases & Brief Reports; Meyer BI, Williams PJ et. al.

Dec 17th, 2020 - Adams-Oliver syndrome is a rare, inherited disorder of embryologic development that affects multiple systems. Ocular manifestations have been poorly characterized due to the low prevalence and high mortality of the disease when it is associated wi...

Aplasia cutis congenita in a CDC42-related developmental phenotype.
https://doi.org/10.1002/ajmg.a.62009
American Journal of Medical Genetics. Part A; Schnabel F, Kamphausen SB et. al.

Dec 8th, 2020 - Cell division cycle 42 (CDC42) is a small Rho GTPase, which serves as a fundamental intracellular signal node regulating actin cytoskeletal dynamics and several other integral cellular processes. CDC42-associated disorders encompass a broad clinic...

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