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occurs in Pitt-Hopkins. It is part of the clinical spectrum of Rett-like syndromes. Pitt-hopkins syndrome is clinically similar to Angelman syndrome, Rett-syndrome...

palsy Rett syndrome Mowat–Wilson syndrome Adenylosuccinate lyase deficiency Pitt–Hopkins syndrome Phelan–McDermid syndrome Prader–Willi syndrome There is...

Syndrome Pickwickian syndrome Pigment dispersion syndrome Pigmented hairy epidermal nevus syndrome Pilotto syndrome Piriformis syndrome Pitt–Hopkins syndrome...

syndrome – deformities of the ears, eyes, cheekbones, and chin Pitt–Hopkins syndrome Beta thalassemia is associated with distinctive facial features...

has been investigated for the treatment of dyslipidemia, obesity, Pitt–Hopkins syndrome, cholestatic liver disease, multiple sclerosis, bleomycin-induced...

speculated that he suffered from the very rare genetic disorder Pitt–Hopkins syndrome. Peter was found in the Hertswold Forest by a party of hunters led...

mature neurons, and gastrointestinal system. Mutations in TCF4 cause Pitt-Hopkins Syndrome (PTHS). These mutations cause TCF4 proteins to not bind to DNA properly...

RV, Turner S, Ledbetter DH, Martin CL (1993). "17q12 Recurrent Deletion Syndrome". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya...

"Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)". Am. J. Hum. Genet. 80 (5): 994–1001...

Wild Boy of Hamelin (1724): 32–41  – Mentally disabled boy with Pitt-Hopkins Syndrome. Another man in the Pyrenees (1774). Found by shepherds in forest...

been transmitted to him via her milk. (It is now thought he had Pitt-Hopkins syndrome, a condition unidentified until 1978.) The belief that animal characteristics...

experimental drug developed for Angelman syndrome, Phelan-McDermid syndrome, Pitt Hopkins syndrome, and Prader-Willi syndrome. Markati, Theodora; Duis, Jessica;...

9q34 deletion syndrome is a rare genetic disorder. Terminal deletions of chromosome 9q34 have been associated with childhood hypotonia, a distinctive facial...

Ungrouped TCF4 Pitt–Hopkins syndrome ZFP57 TNDM1 TP63 Rapp–Hodgkin syndrome/Hay–Wells syndrome/Ectrodactyly–ectodermal dysplasia–cleft syndrome 3/Limb–mammary...

a set of characteristic physiological features which define whether a syndrome is a ciliopathy. Although ciliopathies are usually considered to involve...

neurodevelopmental disorders, such as epilepsy, autism, Pitt–Hopkins syndrome and 16p11.2 deletion syndrome. Sive received her Bachelor of Science with honors...

syndrome Pinsky–Di George–Harley syndrome Pinta Pipecolic acidemia PIRA Pitt–Hopkins syndrome Pitt–Rogers–Danks syndrome Pituitary dwarfism 1 Pityriasis...

Recessive mutations in CNTNAP2 result in a disorder that resembles Pitt–Hopkins syndrome. CNTNAP2 has been shown to interact with CNTN2. Brett Abrahams,...

February 1785), feral boy with learning difficulties and possible Pitt–Hopkins syndrome from Germany, who was original brought to England as a curiosity...

genetic disorder Pitt–Hopkins syndrome is first described. Victor Skumin first describes "cardioprosthetic psychopathological syndrome", later known as...