Li–Fraumeni syndrome is a rare, autosomal dominant, hereditary disorder that predisposes carriers to cancer development. It was named after two American...

a specific type of progeroid syndrome, also known as Hutchinson–Gilford syndrome or Hutchinson–Gilford progeroid syndrome (HGPS). A single gene mutation...

syndrome of esophageal cancer with tylosis, juvenile polyposis syndrome, Li–Fraumeni syndrome, multiple endocrine neoplasia type 1/2, multiple osteochondromatosis...

responsible for DNA repair Li–Fraumeni syndrome, a rare autosomal genetic disorder caused by defects in DNA repair Nijmegen breakage syndrome, a rare autosomal...

Marfanoid–progeroid–lipodystrophy syndrome (MPL), also known as Marfan lipodystrophy syndrome (MFLS) or progeroid fibrillinopathy, is an extremely rare...

Bloom syndrome (often abbreviated as BS in literature) is a rare autosomal recessive genetic disorder characterized by short stature, predisposition to...

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

tail syndrome Limb–mammary syndrome Linburg–Comstock syndrome Li–Fraumeni syndrome Locked-in syndrome Locomotive syndrome Loeys–Dietz syndrome Loin pain...

Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare and fatal autosomal recessive neurodegenerative disorder characterized by growth...

Werner syndrome (WS) or Werner's syndrome, also known as "adult progeria", is a rare, autosomal recessive disorder which is characterized by the appearance...

initials of the words involved. BIDS syndrome, also called Amish brittle hair brain syndrome and hair-brain syndrome, is an autosomal recessive inherited...

Rothmund–Thomson syndrome (RTS) is a rare autosomal recessive skin condition. There have been several reported cases associated with osteosarcoma. A hereditary...

Wiedemann–Rautenstrauch (WR) syndrome (German pronunciation: [ˈviːdəman ˈʁaʊtn̩ʃtʁaʊx]), also known as neonatal progeroid syndrome, is a rare autosomal recessive...

in genes that lead to Lynch Syndrome put individuals at risk for ovarian cancer. TP53: Mutations cause Li-Fraumeni syndrome. It produces particularly high...

Syndromes with an increased incidence of hepatoblastoma include Beckwith–Wiedemann syndrome, trisomy 18, trisomy 21, Acardi syndrome, Li–Fraumeni syndrome...

atrophicus Lichen spinulosus Lichstenstein syndrome Lida–Kannari syndrome Liddle syndrome Li–Fraumeni syndrome Light chain disease Ligyrophobia Limb deficiencies...

factors include genetic disorders, such as neurofibromatosis and Li–Fraumeni syndrome, and previous radiation therapy. Glioblastomas represent 15% of all...

chromosome 17, specifically at position 17q24, generally spontaneously arising or de novo mutations. Also, numerous single nucleotide variants been identified...

treatments and prevention for cancer. DeSanctis–Cacchione syndrome Genetic disorder Biogerontology Cockayne syndrome List of skin conditions List of cutaneous...

Fenselau, biochemist and mass spectrometrist Joseph F. Fraumeni Jr., described Li–Fraumeni syndrome Irwin Freedberg, former director of the school's dermatology...

Wilhelm Lutz Li–Fraumeni syndrome – Frederick Pei Li, Joseph F. Fraumeni, Jr. Libman–Sacks disease – Emanuel Libman, Benjamin Sacks Liddle's syndrome – Grant...

discovered three CHEK2 germline mutations among four Li–Fraumeni syndrome (LFS) and 18 Li–Fraumeni-like (LFL) families. Since the time of this discovery...

Dyskeratosis congenita (DKC), also known as Zinsser-Engman-Cole syndrome, is a rare progressive congenital disorder with a highly variable phenotype. The...

European Union countries as well as Canada, Australia and New Zealand Li–Fraumeni syndrome Laminar Flame speed This disambiguation page lists articles associated...

PMID 30031689. Mitchel MW, Moreno-De-Luca D, Myers SM, Levy RV, Turner S, Ledbetter DH, Martin CL (1993). "17q12 Recurrent Deletion Syndrome". In Adam MP, Ardinger...

hormone binding globulin (17p13.1) TP53: tumor suppressor protein p53 (Li-Fraumeni syndrome), tumor suppressor gene (17p13.1) ASPA: aspartoacylase (Canavan disease)...

De Barsy syndrome is a rare autosomal recessive genetic disorder. Symptoms include cutis laxa (loose hanging skin) as well as other eye, musculoskeletal...

increases the risk of bone sarcoma. Certain inherited genetic syndromes, including Li-Fraumeni syndrome, inherited RB1 gene mutations, and Paget's disease of...

ophthalmologist and philanthropist Frederick Pei Li (1940–2015), American physician and co-discoverer of Li-Fraumeni syndrome Frederik Magle (born 1977), Danish composer...

hereditary predispositions are mainly neurofibromatosis type I, Li-Fraumeni syndrome, hereditary nonpolyposis colorectal cancer and tuberous sclerosis...