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

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

(26)  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   more..


Author keywords

Balanced translocation; Haploinsufficiency; Pitt Hopkins syndrome; TCF4

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR 4; UNCLASSIFIED DRUG;

EID: 79959520912     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34070     Document Type: Article
Times cited : (54)

References (20)
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    • Mental retardation, "coarse" face, and hyperbreathing: Confi{ligature}rmation of the Pitt-Hopkins syndrome
    • Van Balkom ID, Quartel S, Hennekam RC. 1998. Mental retardation, "coarse" face, and hyperbreathing: Confi{ligature}rmation of the Pitt-Hopkins syndrome. Am J Med Genet 75: 273-276.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.