Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations

European Journal of Medical Genetics

Volumn 56, Issue 8, 2013, Pages 404-410

  Migliore, Chiara ^a   Athanasakis, Emmanouil ^a   Dahoun, Sophie ^b   Wonkam, Ambroise ^c,d   Lees, Melissa ^e   Calabrese, Olga ^f   Connell, Fiona ^g   Lynch, Sally Ann ^h   Izzi, Claudia ⁱ   Pompilii, Eva ^j   Thakur, Seema ^e   van Maarle, Merel ^k   Wilson, Louise C ^e   Meroni, Germana ^a  

^a INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^b GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^c UNIVERSITY OF CAPE TOWN   (South Africa)

^d UNIVERSITY OF YAOUNDÉ I   (Cameroon)

^e Great Ormond Street Hospital NHS Foundation Trust ^*  (India)

^f ASL Imola   (Italy)

^g GUY S HOSPITAL   (United Kingdom)

^h OUR LADY S CHILDREN S HOSPITAL   (Ireland)

ⁱ UNIVERSITY OF BRESCIA   (Italy)

^j UNIVERSITY OF BOLOGNA   (Italy)

^k UNIVERSITY OF AMSTERDAM   (Netherlands)

more..

Author keywords

MID1; Midline defects; Opitz G BBB Syndrome; Structural variants; X chromosome

Indexed keywords

MID1 PROTEIN; UBIQUITIN PROTEIN LIGASE E3; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; ECHOCARDIOGRAPHY; EXON; FETUS; HUMAN; HYPERTELORISM; HYPOSPADIAS; INDEL MUTATION; INFANT; MALE; MICROGNATHIA; MISSENSE MUTATION; NONSENSE MUTATION; OPITZ SYNDROME; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; TELECANTHUS;

MID1; MIDLINE DEFECTS; OPITZ G/BBB SYNDROME; STRUCTURAL VARIANTS; X-CHROMOSOME;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME INVERSION; CLEFT PALATE; ESOPHAGUS; EXONS; GENE ORDER; GENETIC DISEASES, X-LINKED; HUMANS; HYPERTELORISM; HYPOSPADIAS; INFANT; MALE; MICROTUBULE PROTEINS; MUTATION; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; POINT MUTATION; SEQUENCE DELETION; TRANSCRIPTION FACTORS; TRANSLOCATION, GENETIC; YOUNG ADULT;

EID: 84881543853     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.05.009     Document Type: Article

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