Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation

American Journal of Medical Genetics, Part A

Volumn 152, Issue 6, 2010, Pages 1540-1544

  Rudnik Schöneborn, Sabine ^a   Takahashi, Tsutomu ^b   Busse, Sabine ^a   Schmidt, Thorsten ^a   Senderek, Jan ^a   Eggermann, Thomas ^a   Zerres, Klaus ^a  

^a RWTH AACHEN UNIVERSITY   (Germany)

^b AKITA UNIVERSITY   (Japan)

Author keywords

Facioaudiosymphalangism syndrome; Multiple synostosis syndrome; NOG gene; Overgrowth; Proximal symphalangism

Indexed keywords

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; FACIOAUDIOSYMPHALANGISM SYNDROME; GENE; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC DISORDER; GROWTH ACCELERATION; HETEROZYGOSITY; HUMAN; MALE; MALFORMATION SYNDROME; MISSENSE MUTATION; NOG GENE; PRIORITY JOURNAL; SCHOOL CHILD; X RAY;

CARRIER PROTEINS; CHILD; CRANIOFACIAL ABNORMALITIES; FINGER PHALANGES; GROWTH DISORDERS; HETEROZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; SYNDROME; SYNOSTOSIS; YOUNG ADULT;

EID: 77952774329     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33387     Document Type: Article

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