Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement-Reference-Cited by-同舟云学术

Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement

Published:2019-02-18 Issue:4 Volume:95 Page:462-478
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Zollino Marcella¹²,Zweier Christiane³,Van Balkom Ingrid D.⁴⁵,Sweetser David A.⁶,Alaimo Joseph⁷,Bijlsma Emilia K.⁸,Cody Jannine⁹,Elsea Sarah H.⁷,Giurgea Irina¹⁰,Macchiaiolo Marina¹¹,Smigiel Robert¹²,Thibert Ronald L.¹³,Benoist Ingrid¹⁴,Clayton-Smith Jill¹⁵,De Winter Channa F.¹⁶,Deckers Stijn¹⁷,Gandhi Anusha⁷,Huisman Sylvia¹⁸,Kempink Dagmar¹⁹,Kruisinga Frea¹⁸,Lamacchia Vittoria²⁰,Marangi Giuseppe¹²,Menke Leonie¹⁸,Mulder Paul⁴⁵,Nordgren Ann²¹,Renieri Alessandra²⁰,Routledge Sue²²,Saunders Carol J.²³,Stembalska Agnieszka²⁴,Van Balkom Hans²⁵,Whalen Sandra¹⁰,Hennekam Raoul C.¹⁸

Affiliation:

1. Fondazione Policlinico Universitario A.Gemelli; IRCCS UOC Genetica

2. Università Cattolica Sacro Cuore; Istituto di Medicina Genomica; Roma Italy

3. Institute of Human Genetics; Friedrich-Alexander-Universität Erlangen-Nürnberg; Erlangen Germany

4. Jonx Department of (Youth) Mental Health and Autism; Lentis Psychiatric Institute; Groningen The Netherlands

5. Rob Giel Research Centre, Department of Psychiatry; University Medical Center Groningen; Groningen The Netherlands

6. Division of Medical Genetics and Metabolism; Massachusetts General Hospital for Children; Boston Massachusetts

7. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas

8. Department of Clinical Genetics; Leiden University Medical Center; Leiden The Netherlands

9. Department of Pediatrics; University of Texas Health Science Center at San Antonio; San Antonio Texas

10. Sorbonne Université, INSERM, UMR_S 933, Assistance Publique Hôpitaux de Paris, Département de Génétique Médicale; Hôpital Trousseau; Paris France

11. Rare and Genetic Diseases Unit; Bambino Gesù Children's Hospital; Rome Italy

12. Department of Pediatrics, Division of Pediatrics and Rare Disorders; Wroclaw Medical University; Wroclaw Poland

13. Department of Neurology; Massachusetts General Hospital and Harvard Medical School; Boston Massachusetts

14. Dutch Pitt-Hopkins Syndrome Foundation, Vlaggeschip; Oosterhout The Netherlands

15. Manchester Centre for Genomic Medicine, St Mary's Hospital, and Division of Evolution and Genomic Sciences School of Biological Sciences; University of Manchester; Manchester UK

16. Organisation for Individuals with Intellectual Disabilities, Trajectum; Zwolle The Netherlands

17. Department of Pedagogical Sciences; Radboud University Nijmegen; Nijmegen The Netherlands

18. Department of Pediatrics; Academic Medical Centre, Amsterdam UMC; Amsterdam The Netherlands

19. Department of Orthopedic Surgery; Sophia Children's Hospital, UMCR; Rotterdam The Netherlands

20. Department of Medical Genetics; University of Siena; Siena Italy

21. Karolinska Center for Rare Diseases; Karolinska University Hospital; Stockholm Sweden

22. Pitt Hopkins UK; Ilford UK

23. Center for Pediatric Genomic Medicine; Children's Mercy Hospital; Kansas City Missouri

24. Department of Genetics; Wroclaw Medical University; Wroclaw Poland

25. Behavioral Science Institute; Radboud University Nijmegen; Nijmegen The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13506/fullpdf

Reference88 articles.

1. A syndrome of mental retardation, wide mouth and intermittent overbreathing;Pitt;Austr Paediatr,1978

2. The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria;Marangi;Am J Med Genet,2011

3. Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum;Whalen;Hum Mutat,2012

4. Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an Internet questionnaire system;De Winter;Orphanet J Rare Dis,2016

5. Functional diversity of human basic helix-loop-helix transcription factor TCF4 isoforms generated by alternative 5′ exon usage and splicing;Sepp;PLoS One,2011

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