Pitt–Hopkins syndrome (PTHS) is a rare genetic disorder characterized by developmental delay, epilepsy, distinctive facial features, and possible intermittent...

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

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

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

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

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...

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...

Okamoto syndrome Opitz G/BBB syndrome Pascual-Castroviejo syndrome Pitt–Hopkins syndrome Sensenbrenner syndrome Strømme syndrome Triploid syndrome Trisomy...

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

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...

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

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

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

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...

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

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

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

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

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

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

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

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

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;...

this gene, which is located on 18q, were identified as the cause of Pitt-Hopkins disease. This is the first gene that has been definitively shown to directly...

Perkins – mid 70s Joe Perry – early 70s Richard Pickens Cyril Pinder Mike Pitts Mike Pyle Bob Riley Isiah Robertson Adrian Robinson – mid 20s Rocky Rosema...