CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases

American Journal of Medical Genetics, Part A

Volumn 164, Issue 10, 2014, Pages 2557-2566

  Wenger, Tara L ^a   Harr, Margaret ^a   Ricciardi, Stefania ^b   Bhoj, Elizabeth ^a   Santani, Avni ^a   Adam, Margaret P ^c   Barnett, Sarah S ^d   Ganetzky, Rebecca ^a   McDonald McGinn, Donna M ^a   Battaglia, Domenica ^b   Bigoni, Stefania ^e   Selicorni, Angelo ^f   Sorge, Giovanni ^g   Monica, Matteo Della ^h   Mari, Francesca ⁱ   Andreucci, Elena ^j   Romano, Silvia ^j   Cocchi, Guido ^k   Savasta, Salvatore ^l   Malbora, Baris ^m   Marangi, Giuseppe ^b   Garavelli, Livia ⁿ   Zollino, Marcella ^b   Zackai, Elaine H ^a   more..

^a SEATTLE CHILDREN S HOSPITAL   (United States)

^b CATHOLIC UNIVERSITY   (Italy)

^c UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF MISSOURI   (United States)

^e Azienda Ospedaliero Universitaria di Ferrara   (Italy)

^f UNIVERSITY OF MILANO BICOCCA   (Italy)

^g UNIVERSITY OF CATANIA   (Italy)

^h Gaetano Rummo General Hospital   (Italy)

ⁱ UNIVERSITY OF SIENA   (Italy)

^j UNIVERSITY OF FLORENCE   (Italy)

^k UNIVERSITY OF BOLOGNA   (Italy)

^l FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^m GATA HAYDARPASA TRAINING HOSPITAL   (Turkey)

ⁿ S MARIA NUOVA HOSPITAL   (Italy)

more..

Author keywords

CHARGE syndrome; Craniosynostosis; Intellectual disability; Minor malformations; Mowat Wilson syndrome

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 2; FIBROBLAST GROWTH FACTOR RECEPTOR 3; TRANSCRIPTION FACTOR TWIST; HOMEODOMAIN PROTEIN; REPRESSOR PROTEIN; ZEB2 PROTEIN, HUMAN;

ADULT; ARNGAP15 GENE; ARTICLE; CHILD; CHOANA ATRESIA; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; COLOBOMA; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; CRANIOFACIAL SYNOSTOSIS; DEVELOPMENTAL DISORDER; FACE MALFORMATION; FEMALE; FGFR2 GENE; FGFR3 GENE; GENE; GENE DELETION; GENETIC DISORDER; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; GTDC1 GENE; HAPLOINSUFFICIENCY; HUMAN; INTELLECTUAL IMPAIRMENT; KYNU GENE; LRP1B GENE; MALE; MISSENSE MUTATION; MOWAT WILSON SYNDROME; MUTATIONAL ANALYSIS; PRESCHOOL CHILD; SCHOOL CHILD; SPLICING DEFECT; SYNDROME CHARGE; TWIST GENE; UROGENITAL TRACT MALFORMATION; YOUNG ADULT; ZEB2 GENE; CHARGE SYNDROME; CONGENITAL MALFORMATION; CRANIOSYNOSTOSES; FACE; FACIES; GENETIC ASSOCIATION; GENETICS; HIRSCHSPRUNG DISEASE; INFANT; INTELLECTUAL DISABILITY; MICROCEPHALY; MULTIPLE MALFORMATION SYNDROME; MUTATION; NEWBORN; PROCEDURES;

ABNORMALITIES, MULTIPLE; ADULT; CHARGE SYNDROME; CHILD; CHILD, PRESCHOOL; CRANIOSYNOSTOSES; FACE; FACIES; FEMALE; GENETIC ASSOCIATION STUDIES; HIRSCHSPRUNG DISEASE; HOMEODOMAIN PROTEINS; HUMANS; INFANT; INFANT, NEWBORN; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; MUTATION; REPRESSOR PROTEINS; YOUNG ADULT;

EID: 84908241085     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36696     Document Type: Article

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