Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes

American Journal of Medical Genetics, Part A

Volumn 152, Issue 8, 2010, Pages 2067-2073

  Goriely, Anne ^a   Lord, Helen ^b   Lim, Jasmine ^a   Johnson, David ^c   Lester, Tracy ^b   Firth, Helen V ^d   Wilkie, Andrew O M ^a,c  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b CHURCHILL HOSPITAL   (United Kingdom)

^c JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^d ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

Craniosynostosis; Crouzon syndrome; FGFR2; Germline mosaicism; Paternal age effect disorders

Indexed keywords

ASPARTIC ACID; GLYCINE;

ACCURACY; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CHILD; CROUZON SYNDROME; FEMALE; FGFR2 GENE; GENETIC ANALYSIS; GENETIC COUNSELING; GERM LINE; HAIR ROOT; HETEROZYGOSITY; HUMAN; MOSAICISM; MOTHER; PATERNAL AGE; PRIORITY JOURNAL; PYROSEQUENCING; RECEPTOR GENE; RECURRENCE RISK; SOMATIC MUTATION;

ADULT; CHILD; CRANIOFACIAL DYSOSTOSIS; CRANIOSYNOSTOSES; DNA; FEMALE; GENETIC TESTING; GERM-LINE MUTATION; HUMANS; MALE; MOSAICISM; MOTHERS; PATERNAL AGE; PEDIGREE; POLYMERASE CHAIN REACTION; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; SYNDROME;

EID: 77955293912     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33513     Document Type: Article

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