João Farela Neves Rainer Doffinger Gabriela Barcena-Morales Catarina Martins Olivier Papapietro Vincent Plagnol James Curtis Marta Martins Dinakantha Kumararatne Ana Isabel Cordeiro Conceição Neves Luis Miguel Borrego Matilda Katan Sergey Nejentsev
10.3389/fimmu.2018.02863
Front Immunol
2018 Dec 14;9:2863.
aplaid il-10 il-1b plcγ2 auto-inflammatory syndromes cutis laxa sensorineural deafness
CC BY
https://pubmed.ncbi.nlm.nih.gov/30619256/
Cutis Laxa / genetics Hereditary Autoinflammatory Diseases / genetics Immunologic Deficiency Syndromes / genetics Mutation, Missense Phospholipase C gamma / genetics
Cutis Laxa / genetics Hereditary Autoinflammatory Diseases / genetics Immunologic Deficiency Syndromes / genetics Mutation, Missense Phospholipase C gamma / genetics Case Reports Research Support, Non-U.S. Gov't Amino Acid Sequence Base Sequence Cutis Laxa / complications Cutis Laxa / enzymology DNA Mutational Analysis Female Hereditary Autoinflammatory Diseases / complications Hereditary Autoinflammatory Diseases / enzymology Humans Immunologic Deficiency Syndromes / complications Immunologic Deficiency Syndromes / enzymology Infant, Newborn Inflammatory Bowel Diseases / complications Inflammatory Bowel Diseases / genetics Male Pedigree Phospholipase C gamma / chemistry Phospholipase C gamma / metabolism Sequence Homology, Amino Acid Phospholipase C gamma
PMC6302768
30619256
Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa
2018