A further patient with van Maldergem syndrome

European Journal of Medical Genetics

Volumn 55, Issue 6-7, 2012, Pages 423-428

  Neuhann, T M ^a,b   Muller D ^a   Hackmann, K ^a   Holzinger, S ^c   Schrock, E ^a   Di Donato, N ^a  

^a DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^b Medizinisch Genetisches Zentrum   (Germany)

^c UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

Author keywords

Camptodactyly; Clubfoot deformity; Developmental delay; Genital malformation; Microtia; Syndactyly; Van Maldergem syndrome

Indexed keywords

7 DEHYDROCHOLESTEROL; AMINO ACID; CARBOXYLIC ACID;

ADULT; ARTICLE; CAMPTODACTYLY; CASE REPORT; CHROMOSOME 11P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CLINICAL FEATURE; CLUBFOOT; CONSANGUINEOUS MARRIAGE; CRYPTORCHISM; DEVELOPMENTAL DISORDER; EPICANTHUS; FEEDING DISORDER; GENETIC DISORDER; GENITAL MALFORMATION; HUMAN; JOINT LAXITY; KARYOTYPE; MALE; MALFORMATION SYNDROME; MICROPENIS; MICROTIA; NOSE MALFORMATION; PALPEBRAL FISSURE ANOMALY; PTERYGIUM; SCROTUM DISORDER; TELECANTHUS; TUBE FEEDING; URINALYSIS; VAN MALDERGEM SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 9; COMPARATIVE GENOMIC HYBRIDIZATION; CONSANGUINITY; CRANIOFACIAL ABNORMALITIES; DNA COPY NUMBER VARIATIONS; FOOT DEFORMITIES, CONGENITAL; GENETIC ASSOCIATION STUDIES; HAND DEFORMITIES, CONGENITAL; HUMANS; INTELLECTUAL DISABILITY; JOINT INSTABILITY; MALE; TRISOMY;

EID: 84862207734     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.02.012     Document Type: Article

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