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About 128 results

ALLMedicine™ Adams-Oliver Syndrome Center

Research & Reviews  51 results

Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver ...
https://doi.org/10.1016/j.ejmg.2022.104653
European Journal of Medical Genetics; Zepeda-Romero LC, Zenker M et. al.

Nov 5th, 2022 - Adams-Oliver syndrome (AOS) is diagnosed in presence of aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD). The autosomal recessive (AR) DOCK6-related form of AOS is most often associated with a severe phenotype...

Cutaneous squamous cell carcinoma in an autosomal-recessive Adams-Oliver syndrome patie...
https://doi.org/10.1002/ajmg.a.62961
American Journal of Medical Genetics. Part A; Lukas ML, Harald G et. al.

Sep 6th, 2022 - Aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD) are the characteristic findings of Adams-Oliver syndrome (AOS). The variable clinical spectrum further includes cardiac, neurologic, renal, and ophthalmological...

A Drosophila Su(H) model of Adams-Oliver Syndrome reveals cofactor titration as a mecha...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9398005
PLoS Genetics; Gagliani EK, Gutzwiller LM et. al.

Aug 12th, 2022 - Notch signaling is a conserved pathway that converts extracellular receptor-ligand interactions into changes in gene expression via a single transcription factor (CBF1/RBPJ in mammals; Su(H) in Drosophila). In humans, RBPJ variants have been linke...

Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.
https://doi.org/10.1002/ana.26477
Annals of Neurology; Helman G, Zarekiani P et. al.

Aug 11th, 2022 - NOTCH1 belongs to the NOTCH family of proteins that regulate cell fate and inflammatory responses. Somatic and germline NOTCH1 variants have been implicated in cancer, Adams-Oliver syndrome, and cardiovascular defects. We describe 7 unrelated pati...

Severe Adams-Oliver Syndrome after Maternal COVID-19 Infection Could Be Another Effect ...
https://doi.org/10.1080/15513815.2022.2064018
Fetal and Pediatric Pathology; Okido MM, Ragazini CS et. al.

Apr 14th, 2022 - Background. Adams-Oliver syndrome is a congenital disease whose main findings are aplasia cutis congenita of the scalp and terminal transverse limb defects. The pathogenesis is unknown, but it is postulated that ischemic events in susceptible tiss...

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