Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C

American Journal of Medical Genetics, Part A

Volumn 161, Issue 2, 2013, Pages 338-342

  Vogt, Julie ^a,b   Agrawal, Shakti ^c   Ibrahim, Zala ^d   Southwood, Taunton R ^c   Philip, Sunny ^c   Macpherson, Lesley ^c   Bhole, Malini V ^d   Crow, Yanick J ^e   Oley, Christine ^b  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^c BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^d RUSSELLS HALL HOSPITAL   (United Kingdom)

^e UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

Aicardi Gouti res syndrome; Chilblains; RNASEH2C

Indexed keywords

LACTIC ACID; RIBONUCLEASE H; RIBONUCLEASE H2C; UNCLASSIFIED DRUG;

AICARDI GOUTIERES SYNDROME; ARTICLE; ASIAN; BRAIN ATROPHY; CASE REPORT; CHILD; COLD INJURY; CONSANGUINEOUS MARRIAGE; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; FAMILY COUNSELING; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HEAD CIRCUMFERENCE; HEMIPLEGIA; HOMOZYGOSITY; HUMAN; INFANT; INTELLIGENCE; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PHENOTYPIC VARIATION; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; RNASEH2C GENE; SIBLING; THROMBOCYTOSIS; WHITE MATTER INJURY;

ABNORMALITIES, MULTIPLE; AUTOIMMUNE DISEASES OF THE NERVOUS SYSTEM; BRAIN DISEASES; CHILBLAINS; CHILD, PRESCHOOL; CONSANGUINITY; FEMALE; FOUNDER EFFECT; HEMIPLEGIA; HUMANS; INFANT; NERVOUS SYSTEM MALFORMATIONS; PHENOTYPE; RIBONUCLEASE H;

EID: 84872919278     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35712     Document Type: Article

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