Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome

American Journal of Medical Genetics, Part A

Volumn 146, Issue 23, 2008, Pages 3070-3074

  Watanabe, Yoriko ^a   Sakai, Haruya ^b   Nishimura, Akira ^b   Miyake, Noriko ^b   Saitsu, Hirotomo ^b   Mizuguchi, Takeshi ^b   Matsumoto, Naomichi ^b  

^a Kurume University Graduate School of Medicine Kurume University Graduate School of Medicine Graduate School Biostatistics   (Japan)

^b YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Loeys Dietz syndrome; Marfan syndrome; Mosaicism; Mutation; TGFBR2

Indexed keywords

DNA; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2;

ARTICLE; BLOOD SAMPLING; CASE REPORT; CHEEK; CLINICAL FEATURE; ENVIRONMENTAL EXPOSURE; GENETIC DISORDER; HUMAN; HUMAN TISSUE; LOEYS DIETZ SYNDROME; MALE; MISSENSE MUTATION; MOSAICISM; NAIL; PATERNALISM; PRESCHOOL CHILD; PRIORITY JOURNAL; TISSUE LEVEL;

ARGININE; FATHERS; GLYCINE; HETEROZYGOTE; HUMANS; MALE; MARFAN SYNDROME; MOSAICISM; MUTATION, MISSENSE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA;

EID: 57149116772     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32567     Document Type: Article

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