Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion

Journal of Medical Genetics

Volumn 50, Issue 9, 2013, Pages 579-584

  Jamsheer, Aleksander ^a,b   Zemojtel, Tomasz ^c,d   Kolanczyk, Mateusz ^c,e   Stricker, Sigmar ^e   Hecht, Jochen ^c,e   Krawitz, Peter ^c   Doelken, Sandra C ^c   Glazar, Renata ^b   Socha, Magdalena ^a   Mundlos, Stefan ^c,e  

^a POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^b NZOZ Center for Medical Genetics   (Poland)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d INSTITUTE OF BIOORGANIC CHEMISTRY   (Poland)

^e MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR 16; GROWTH DIFFERENTIATION FACTOR 5;

ARTICLE; CHROMOSOME XQ; COMPARATIVE GENOMIC HYBRIDIZATION; ETHNICITY; EXOME; EXON; GENE SEQUENCE; GENETIC SCREENING; HAND MALFORMATION; HUMAN; INDEL MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OSTEOTOMY; PRIORITY JOURNAL; PROTEIN EXPRESSION; X CHROMOSOME RECESSIVE DISORDER; X LINKED RECESSIVE METACARPAL 4 5 FUSION;

FGF16; METACARPAL 4-5 FUSION; METACARPAL SYNOSTOSIS; NONSENSE MUTATION; X-LINKED INHERITANCE;

CHILD; CODON, NONSENSE; EMBRYO, MAMMALIAN; EXOME; FEMALE; FIBROBLAST GROWTH FACTORS; GENETIC DISEASES, X-LINKED; HAND DEFORMITIES, CONGENITAL; HUMANS; MALE; METACARPAL BONES; ORGAN SPECIFICITY; SEQUENCE ANALYSIS, DNA;

EID: 84883149881     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-101659     Document Type: Article

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