A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

Journal of Medical Genetics

Volumn 49, Issue 2, 2012, Pages 104-109

  Molin, A M ^a   Andrieux, J ^b   Koolen, D A ^c   Malan, V ^d   Carella, M ^e   Colleaux, L ^d   Cormier Daire, V ^d   David, A ^f   de Leeuw, N ^c   Delobel, B ^g   Duban Bedu, B ^g   Fischetto, R ^h   Flinter, F ⁱ   Kjaergaard, S ^j   Kok, F ^k   Krepischi, A C ^k,l   Le Caignec, C ^f,m   Mackie Ogilvie, C ⁱ   Maia, S ⁿ   Mathieu Dramard, M ^o   Munnich, A ^d   Palumbo, O ^e   Papadia, F ^h   Pfundt, R ^c   Reardon, W ^p   Receveur, A ^o   Rio, M ^d   Darling, L Ronsbro ^j   Rosenberg, C ^k   Sa J ⁿ   Vallee, L ^b   Vincent Delorme, C ^b   Zelante, L ^e   Bondeson, M L ^a   Anneren G ^a   more..

^a UPPSALA UNIVERSITY   (Sweden)

^b LILLE UNIVERSITY HOSPITAL   (France)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d INSERM   (France)

^e CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^f NANTES UNIVERSITY HOSPITAL   (France)

^g GHICL   (France)

^h POLICLINICO   (Italy)

ⁱ GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^j Rigshospitalet   (Denmark)

^k UNIVERSITY OF SÃO PAULO   (Brazil)

^l A C CAMARGO CANCER CENTER   (Brazil)

^m L INSTITUT DU THORAX   (France)

ⁿ CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^o AMIENS UNIVERSITY HOSPITAL   (France)

^p OUR LADY S CHILDREN S HOSPITAL   (Ireland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHILD; CHROMOSOME 11Q; CHROMOSOME 3Q; CHROMOSOME DELETION; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CLINICAL FEATURE; CONTROLLED STUDY; COPY NUMBER VARIATION; CYTOGENETICS; DEVELOPMENTAL DISORDER; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; GROWTH DISORDER; HUMAN; HYPERTELORISM; HYPOPLASIA; MALE; MICROARRAY ANALYSIS; MICROPENIS; MUSCLE HYPOTONIA; PRIORITY JOURNAL;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 3; DEVELOPMENTAL DISABILITIES; FACIES; FEMALE; GENETIC ASSOCIATION STUDIES; GENITALIA, MALE; GROWTH DISORDERS; HUMANS; MALE; NERVE TISSUE PROTEINS; RECEPTORS, DOPAMINE D3; SYNDROME; TRANSCRIPTION FACTORS;

EID: 84856007083     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2011-100534     Document Type: Article

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