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...

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

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...

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

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

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...

treatment of absence epilepsy, Pitt-Hopkins syndrome, Dravet syndrome, binge-eating disorder, Lennox-Gastaut syndrome, and opioid-related disorders. It...

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

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...

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...

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

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

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...

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

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...

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

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

conditions such as Proteus syndrome, Crouzon syndrome, epidermal dysplasia, Pitt-Hopkins syndrome, ichthyosis, and Marfan syndrome. During a tour of his facility...

donations in his memory be made to a charity supporting sufferers of Pitt–Hopkins syndrome. Mr. Charm School, IrishTimes.com; accessed 2 April 2017. "Bunny...

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

can refer to: Paducah Tilghman High School Parathyroid hormones Pitt-Hopkins syndrome Port Townsend High School Pontiac Township High School National...

type C Porphyria Selective mutism Edwards syndrome (trisomy 18) Tetrasomy 18p Monosomy 18p Pitt–Hopkins syndrome 18q21 Distal 18q- (distal deletion) Proximal...

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

Scientific Advisory Boards of the Foundation for Angelman Syndrome Therapeutics and Pitt Hopkins Syndrome International Network. He also served on the Fragile...

brains to behave normally. The specific type of autism is called Pitt–Hopkins syndrome and researchers are looking into possible treatments that could...

may be associated with various neurological disorders, such as Pitt-Hopkins syndrome. GRCh38: Ensembl release 89: ENSG00000060709 – Ensembl, May 2017...

Tuberculosis, Chagas disease and rare diseases such as Batten Disease, Pitt Hopkins Syndrome and others. To date they have obtained 8 orphan drug designations...

172870; CRB1 Pilomatricoma; 132600; CTNNB1 Pitt–Hopkins-like syndrome 1; 610042; CNTNAP2 Pitt–Hopkins syndrome; 610954; TCF4 Pituitary adenoma, ACTH-secreting;...