Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system-Reference-Cited by-同舟云学术

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Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system

Published:2016-04-12 Issue:1 Volume:11 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

de Winter Channa F.,Baas Melanie,Bijlsma Emilia K.,van Heukelingen John,Routledge Sue,Hennekam Raoul C. M.

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-016-0422-2

Reference16 articles.

1. Pitt D, Hopkins I. A syndrome of mental retardation, wide mouth and intermittent overbreathing. Aust Paediatr J. 1978;14(3):182–4.

2. Peippo MM et al. Pitt-Hopkins syndrome in two patients and further definition of the phenotype. Clin Dysmorphol. 2006;15(2):47–54.

3. Whalen S et al. Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. Hum Mutat. 2012;33(1):64–72.

4. Marangi G et al. The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. Am J Med Genet A. 2011;155A(7):1536–45.

5. Rosenfeld JA et al. Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations. Genet Med. 2009;11(11):797–805.

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2. Tcf4 dysfunction alters dorsal and ventral cortical neurogenesis in Pitt-Hopkins syndrome mouse model showing sexual dimorphism;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2024-06

3. From Genotype to Phenotype of Polish Patients with Pitt–Hopkins Syndrome concerning the Quality of Life and Family Functioning;Journal of Clinical Medicine;2024-04-29

4. Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt–Hopkins syndrome: a retrospective study;Orphanet Journal of Rare Diseases;2024-02-08

5. A patient with Pitt–Hopkins syndrome with concomitant common variable immunodeficiency;American Journal of Medical Genetics Part A;2023-12-08

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