{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T02:53:27Z","timestamp":1760237607669,"version":"build-2065373602"},"reference-count":26,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2020,5,28]],"date-time":"2020-05-28T00:00:00Z","timestamp":1590624000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"George Emil Palade University of Medicine, Pharmacy, Sciences and Technology of T\u00e2rgu Mure\u0219","award":["615\/6\/17.01.2019"],"award-info":[{"award-number":["615\/6\/17.01.2019"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Pitt Hopkins syndrome (PTHS) is a very rare condition and until now, approximately 500 patients were reported worldwide, of which not all are genetically confirmed. Usually, individuals with variants affecting exons 1 to 5 in the TCF4 gene associate mild intellectual disability (ID), between exons 5 to 8, moderate to severe ID and sometimes have some of the characteristics of PTHS, and variants starting from exon 9 to exon 20 associate a typical PTHS phenotype. In this report, we describe the clinical and molecular findings of a Caucasian boy diagnosed with PTHS. PTHS phenotype is described including craniofacial dysmorphism with brachycephaly, biparietal narrowing, wide nasal bridge, thin and linear lateral eyebrows, palpebral edema, full cheeks, short philtrum, wide mouth with prominent and everted lips, prominent Cupid\u2019s bow, downturned corners of the mouth, microdontia and also the clinical management of the patient. The previously and the current diagnosis scores are described in this report and also the challenges and their benefits for an accurate and early diagnosis.<\/jats:p>","DOI":"10.3390\/genes11060596","type":"journal-article","created":{"date-parts":[[2020,5,29]],"date-time":"2020-05-29T00:44:02Z","timestamp":1590713042000},"page":"596","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient"],"prefix":"10.3390","volume":"11","author":[{"given":"Florin","family":"Tripon","sequence":"first","affiliation":[{"name":"Laboratory of Medical Genetics, Emergency Clinical County Hospital T\u00e2rgu Mure\u0219, 540136 T\u00e2rgu Mure\u0219, Romania"},{"name":"Department of Genetics, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of T\u00e2rgu Mure\u0219, 540142 T\u00e2rgu Mure\u0219, Romania"},{"name":"Laboratory of Molecular Biology\/Genetics, Center for Advanced Medical and Pharmaceutical Research, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of T\u00e2rgu Mure\u0219, 540142 T\u00e2rgu Mure\u0219, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alina","family":"Bogli\u0219","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Emergency Clinical County Hospital T\u00e2rgu Mure\u0219, 540136 T\u00e2rgu Mure\u0219, Romania"},{"name":"Department of Genetics, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of T\u00e2rgu Mure\u0219, 540142 T\u00e2rgu Mure\u0219, Romania"},{"name":"Laboratory of Molecular Biology\/Genetics, Center for Advanced Medical and Pharmaceutical Research, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of T\u00e2rgu Mure\u0219, 540142 T\u00e2rgu Mure\u0219, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristian","family":"Micheu","sequence":"additional","affiliation":[{"name":"Child Neurology Psychiatry Clinic, Clinical County Hospital Mure\u0219, 540072 T\u00e2rgu Mure\u015f, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ioana","family":"Strea\u021b\u0103","sequence":"additional","affiliation":[{"name":"Regional Center for Medical Genetics Dolj\u2014Clinical County Emergency Hospital Craiova, University of Medicine and Pharmacy Craiova, 200642 Craiova, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"B\u0103nescu","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Emergency Clinical County Hospital T\u00e2rgu Mure\u0219, 540136 T\u00e2rgu Mure\u0219, Romania"},{"name":"Department of Genetics, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of T\u00e2rgu Mure\u0219, 540142 T\u00e2rgu Mure\u0219, Romania"},{"name":"Laboratory of Molecular Biology\/Genetics, Center for Advanced Medical and Pharmaceutical Research, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of T\u00e2rgu Mure\u0219, 540142 T\u00e2rgu Mure\u0219, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,5,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1111\/cge.13506","article-title":"Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement","volume":"95","author":"Zollino","year":"2019","journal-title":"Clin. 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