X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

Human Genetics

Volumn 133, Issue 5, 2014, Pages 625-638

  Moller R S ^a,b,p   Jensen, L R ^c,t   Maas, S M ^d   Filmus, J ^e   Capurro, M ^e   Hansen, C ^b   Marcelis, C L M ^f   Ravn, K ^g   Andrieux, J ^h   Mathieu, M ⁱ   Kirchhoff, M ^g   Rodningen O K ^j   De Leeuw, N ^f   Yntema, H G ^f   Froyen, G ^k   Vandewalle, J ^k   Ballon, K ^l   Klopocki, E ^m,n   Joss, S ^o   Tolmie, J ^o   Knegt, A C ^d   Lund, A M ^g   Hjalgrim, H ^a,p   Kuss, A W ^c,t   Tommerup, N ^b   Ullmann, R ^q   De Brouwer, A P M ^f,r   Stromme P ^s   Kjaergaard, S ^g   Tumer Z ^g   Kleefstra, T ^f   more..

^a DANISH EPILEPSY CENTRE   (Denmark)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c UNIVERSITY MEDICINE GREIFSWALD   (Germany)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF TORONTO   (Canada)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^g Rigshospitalet   (Denmark)

^h LILLE UNIVERSITY HOSPITAL   (France)

ⁱ AMIENS UNIVERSITY HOSPITAL   (France)

^j ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

^k UNIVERSITY OF LEUVEN   (Belgium)

^l UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^m CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

ⁿ UNIVERSITY OF WÜRZBURG   (Germany)

^o ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^p UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^q MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^r RADBOUD UNIVERSITY   (Netherlands)

^s UNIVERSITY OF OSLO   (Norway)

^t UNIVERSITY OF GREIFSWALD   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR; GENOMIC DNA; MESSENGER RNA;

ADULT; ARTICLE; CHILD; CHROMOSOME DUPLICATION; CHROMOSOME XQ; CHROMOSOME XQ25Q26 DUPLICATION SYNDROME; CLEFT PALATE; CLINICAL ARTICLE; CLINICAL FEATURE; EPILEPSY; FAMILY STUDY; FEMALE; FINGER MALFORMATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE SEQUENCE; GENITAL MALFORMATION; GROWTH RETARDATION; HUMAN; HUMAN GENOME; HYPOGONADISM; INTELLECTUAL IMPAIRMENT; KARYOTYPING; MALE; MICROARRAY ANALYSIS; MICROCEPHALY; MOUSE; MULTIPLE MALFORMATION SYNDROME; MUSCLE HYPOTONIA; NEXT GENERATION PAIRED END SEQUENCING; NONHUMAN; PHENOTYPE; POSTNATAL DEVELOPMENT; PRIORITY JOURNAL; PTOSIS; RECEPTOR GENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SHORT STATURE; TRANSGENIC MOUSE; X CHROMOSOME LINKED DISORDER;

ABNORMALITIES, MULTIPLE; ADULT; ANIMALS; BLEPHAROPTOSIS; BODY HEIGHT; CHILD; CHROMOSOME DUPLICATION; CLEFT PALATE; FEMALE; FINGERS; GENETIC DISEASES, X-LINKED; HUMANS; INTELLECTUAL DISABILITY; KARYOTYPING; MALE; MICE; MICE, TRANSGENIC; MICROCEPHALY; SYNDROME;

EID: 84899643232     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-013-1403-3     Document Type: Article

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