The Pitt-Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria

American Journal of Medical Genetics, Part A

Volumn 155, Issue 7, 2011, Pages 1536-1545

  Marangi, Giuseppe ^a   Ricciardi, Stefania ^a   Orteschi, Daniela ^a   Lattante, Serena ^a   Murdolo, Marina ^a   Dallapiccola, Bruno ^b   Biscione, Chiara ^a   Lecce, Rosetta ^a   Chiurazzi, Pietro ^a   Romano, Corrado ^c   Greco, Donatella ^c   Pettinato, Rosa ^c   Sorge, Giovanni ^d   Pantaleoni, Chiara ^e   Alfei, Enrico ^e   Toldo, Irene ^f   Magnani, Cinzia ^g   Bonanni, Paolo ^h   Martinez, Federica ^h   Serra, Gigliola ⁱ   Battaglia, Domenica ^a   Lettori, Donatella ^a   Vasco, Gessica ^a   Baroncini, Anna ^j   Daolio, Cecilia ^k   Zollino, Marcella ^a   more..

^a CATHOLIC UNIVERSITY   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c OASI RESEARCH INSTITUTE IRCCS   (Italy)

^d UNIVERSITY OF CATANIA   (Italy)

^e DEPARTMENT OF NEUROSURGERY   (Italy)

^f UNIVERSITY OF PADOVA   (Italy)

^g UNIVERSITY OF PARMA   (Italy)

^h SCIENTIFIC INSTITUTE   (Italy)

ⁱ UNIVERSITY HOSPITAL OF SASSARI   (Italy)

^j UOC Genetica Medica   (Italy)

^k UNIVERSITY HOSPITAL OF PADOVA   (Italy)

more..

Author keywords

Balanced translocation; Haploinsufficiency; Pitt Hopkins syndrome; TCF4

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR 4; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; BODY GROWTH; BRAIN DISEASE; CHILD; CHROMOSOME 14Q; CHROMOSOME TRANSLOCATION 14; CLINICAL ARTICLE; CLINICAL FEATURE; CONSTIPATION; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; EYE DISEASE; FACE MALFORMATION; FEMALE; FRAMESHIFT MUTATION; GENE DISRUPTION; GENE MUTATION; GENETIC ANALYSIS; HAPLOINSUFFICIENCY; HAPPY PUPPET SYNDROME; HUMAN; HYPERVENTILATION; INTELLECTUAL IMPAIRMENT; ITALY; MALE; MALFORMATION SYNDROME; MICROCEPHALY; MISSENSE MUTATION; MOTOR DYSFUNCTION; NONSENSE MUTATION; PHENOTYPE; PITT HOPKINS SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; RETT SYNDROME; SCHOOL CHILD; SEIZURE; SPEECH DISORDER; TCF4 GENE;

BASIC HELIX-LOOP-HELIX LEUCINE ZIPPER TRANSCRIPTION FACTORS; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 18; FACIES; FEMALE; GENE DELETION; GENE ORDER; HUMANS; HYPERVENTILATION; MALE; MENTAL RETARDATION; MUTATION; PHENOTYPE; TRANSCRIPTION FACTORS; TRANSLOCATION, GENETIC;

EID: 79959520912     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34070     Document Type: Article

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