monarch-initiative / phenopacket-store

Collections of GA4GH phenopackets that represent individuals with Mendelian diseases.
https://monarch-initiative.github.io/phenopacket-store/
BSD 3-Clause "New" or "Revised" License
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DOCK8 #66

Open pnrobinson opened 7 months ago

pnrobinson commented 7 months ago
pnrobinson commented 7 months ago

Need access to Momtazmanesh S, . Novel Variants of DOCK8 Deficiency in a Case Series of Iranian Patients. Endocr Metab Immune Disord Drug Targets. 2022;22(1):159-168. and to Aydin SE, DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients. J Clin Immunol. 2015 Feb;35(2):189-98.

pnrobinson commented 7 months ago

Yakov -- six individuals presented but scant clinical details, not suitable for phenopacket approach.