Homozygous and compound-heterozygous mutations in TGDS cause catel-manzke syndrome

American Journal of Human Genetics

Volumn 95, Issue 6, 2014, Pages 763-770

  Ehmke, Nadja ^a   Caliebe, Almuth ^b   Koenig, Rainer ^c   Kant, Sarina G ^d   Stark, Zornitza ^e   Cormier Daire, Valérie ^f   Wieczorek, Dagmar ^g   Gillessen Kaesbach, Gabriele ^h   Hoff, Kirstin ^b,i   Kawalia, Amit ^j   Thiele, Holger ^j   Altmüller, Janine ^j,k   Fischer Zirnsak, Björn ^a,l   Knaus, Alexej ^a,l   Zhu, Na ^a   Heinrich, Verena ^a   Huber, Celine ^f   Harabula, Izabela ^l   Spielmann, Malte ^a,l   Horn, Denise ^a   Kornak, Uwe ^a,l   Hecht, Jochen ^a,l   Krawitz, Peter M ^a,l   Nürnberg, Peter ^j,k   Siebert, Reiner ^b   Manzke, Hermann ^m   Mundlos, Stefan ^a,l   more..

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^c GOETHE UNIVERSITY   (Germany)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^e MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

^g UNIVERSITY HOSPITAL ESSEN   (Germany)

^h UNIVERSITY OF LÜBECK   (Germany)

ⁱ DZHK GERMAN CENTRE FOR CARDIOVASCULAR RESEARCH   (Germany)

^j UNIVERSITY OF COLOGNE   (Germany)

^k UNIVERSITY OF COLOGNE   (Germany)

^l MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^m Private Practice   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; NUCLEOTIDE; OXIDOREDUCTASE; SUGAR; THYMIDINE DIPHOSPHATE; THYMIDINE DIPHOSPHATE DEXTRO GLUCOSE 4,6 DEHYDROGENASE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CATEL MANZKE SYNDROME; CHILD; CLINICAL ARTICLE; CLINODACTYLY; EXOME; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INDEX FINGER; MALE; METABOLISM; PIERRE ROBIN SYNDROME; PROTEIN FAMILY; ADOLESCENT; AMINO ACID SEQUENCE; CHEMICAL STRUCTURE; DNA SEQUENCE; ENZYMOLOGY; GENETICS; HAND MALFORMATION; HETEROZYGOTE; HOMOZYGOTE; INFANT; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; PEDIGREE; PRESCHOOL CHILD; SEQUENCE ALIGNMENT; YOUNG ADULT;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; CHILD, PRESCHOOL; EXOME; FEMALE; HAND DEFORMITIES, CONGENITAL; HAPLOTYPES; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; MALE; MIDDLE AGED; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; OXIDOREDUCTASES; PEDIGREE; PIERRE ROBIN SYNDROME; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84919660312     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.11.004     Document Type: Article

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