IMPAD1 mutations in two Catel-Manzke like patients

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 9, 2012, Pages 2183-2187

  Nizon, Mathilde ^a   Alanay, Yasemin ^b,c   Tuysuz, Beyhan ^d   Kiper, Pelin Ozlem Simsek ^b   Geneviève, David ^e   Sillence, David ^f   Huber, Celine ^a   Munnich, Arnold ^a   Cormier Daire, Valérie ^a  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b HACETTEPE UNIVERSITY   (Turkey)

^c ACIBADEM UNIVERSITY   (Turkey)

^d ISTANBUL UNIVERSITY   (Turkey)

^e MONTPELLIER UNIVERSITY HOSPITAL   (France)

^f UNIVERSITY OF SYDNEY   (Australia)

Author keywords

Autosomal recessive inheritance; Catel Manzke; Cleft palate; IMPAD1

Indexed keywords

GENOMIC DNA;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CALCIUM ACTIVATED NUCLEOTIDASE 1 GENE; CATEL MANZKE LIKE SYNDROME; CATEL MANZKE SYNDROME; CHILD; CLEFT PALATE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; DNA DETERMINATION; FEMALE; FINGER MALFORMATION; FOOT RADIOGRAPHY; GENE; GENE MUTATION; GENETIC SCREENING; GROWTH RETARDATION; HAND RADIOGRAPHY; HOMOZYGOTE; HUMAN; INFANT; INOSITOL MONOPHOSPHATASE DOMAIN CONTAINING 1 GENE; JOINT LAXITY; KNEE DISEASE; LIMB MALFORMATION; LOSS OF FUNCTION MUTATION; MALFORMATION SYNDROME; MICROGNATHIA; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SYNOSTOSIS;

HAND DEFORMITIES, CONGENITAL; HUMANS; MUTATION; PHOSPHORIC MONOESTER HYDROLASES; PIERRE ROBIN SYNDROME;

EID: 84865546496     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35504     Document Type: Article

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