A novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases

American Journal of Medical Genetics, Part A

Volumn 161, Issue 1, 2013, Pages 192-197

  Kantaputra, Piranit Nik ^a,b   Sittiwangkul, Rekwan ^c   Sonsuwan, Nuntigar ^c   Romanelli, Valeria ^d,e   Tenorio, Jair ^d,e   Lapunzina, Pablo ^d,e  

^a CHIANG MAI UNIVERSITY   (Thailand)

^b Dentaland Clinic   (Thailand)

^c Faculty of Medicine Chiang Mai University   (Thailand)

^d HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^e INSTITUTO DE SALUD CARLOS III   (Spain)

Author keywords

Anterior open bite; Cryptorchidism; Hearing loss; Macroglossia; P57kip2; Posterior crossbite

Indexed keywords

ALANINE; CYCLIN DEPENDENT KINASE INHIBITOR 1C; MITOGEN ACTIVATED PROTEIN KINASE; PROLINE;

ADULT; ARTICLE; BECKWITH WIEDEMANN SYNDROME; BODY HEIGHT; BODY WEIGHT; CASE REPORT; CDKN1C GENE; CHILD; CLEFT PALATE; CLINICAL FEATURE; CROSSBITE; CRYPTORCHISM; ENZYME PHOSPHORYLATION; FEMALE; GENE; GENE MUTATION; HUMAN; MACROGLOSSIA; MALE; MALOCCLUSION; MAXILLA HYPOPLASIA; MEDICAL PARAMETERS; NUCLEOTIDE REPEAT; OMPHALOCELE; PERCEPTION DEAFNESS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNATHIA; SCHOOL CHILD; SUPERNUMERARY FLEXION CREASE;

BECKWITH-WIEDEMANN SYNDROME; CHILD; CHILD, PRESCHOOL; CLEFT PALATE; CYCLIN-DEPENDENT KINASE INHIBITOR P57; FEMALE; HEARING LOSS, SENSORINEURAL; HERNIA, UMBILICAL; HUMANS; INFANT; MACROGLOSSIA; MALE; MAP KINASE SIGNALING SYSTEM; MUTATION; PHOSPHORYLATION;

EID: 84871676091     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35663     Document Type: Article

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