Results 1 to 10 of about 2,445,354 (228)
Leopard syndrome: the potential cardiac defect underlying skin phenotypes [PDF]
Hereditas, 2021 LEOPARD syndrome (OMIM #151,100) caused by a germline PTPN11 mutation are characterized as multisystemic anomalies and variable marked phenotypes such as multiple lentigines and cafe´-au-lait spots, electrocardiographic conduction abnormalities, ocular ...
Xiaojie Yue +3 more
doaj +3 more sources
The First Vietnamese Patient of LEOPARD Syndrome due to a PTPN11 Mutation: A Case Report and Review of the Literature [PDF]
Case Reports in Genetics, 2021 LEOPARD syndrome is a rare congenital anomaly that involves several organs. Patients with this syndrome develop multiple lentigines resembling a leopard’s hide.
Hao Trong Nguyen +3 more
doaj +3 more sources
LEOPARD Syndrome with a Sporadic PTPN11 Mutation in a Saudi Patient [PDF]
Case Reports in Dermatological Medicine, 2023 LEOPARD syndrome (LS) is a rare autosomal dominant inherited or sporadic genetic disorder caused commonly by missense mutations in the protein-tyrosine phosphatase-nonreceptor type 11 (PTPN11) gene.
Hussein M. Alshamrani +4 more
doaj +3 more sources
Patient with confirmed LEOPARD syndrome developing multiple melanoma [PDF]
Dermatology Practical & Conceptual, 2018 LEOPARD syndrome, also known as Gorlin syndrome II, cardiocutaneous syndrome, lentiginosis profusa syndrome, Moynahan syndrome, was more recently coined as Noonan syndrome with multiple lentigines (NSML), inside the RASopathies. Historically, the acronym
Colmant Caroline +6 more
doaj +3 more sources
Orphanet Journal of Rare Diseases, 2008 LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, including multiple Lentigines, ECG conduction
Dallapiccola Bruno +2 more
doaj +10 more sources
Do you know this syndrome? Leopard syndrome [PDF]
Anais Brasileiros de Dermatologia, 2017 Hypertrophic cardiomyopathy is known as Leopard syndrome, which is a mnemonic rule for multiple lentigines (L), electrocardiographic conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), abnormalities of genitalia (A ...
Flávio Heleno da Silva Queiroz Cançado +5 more
doaj +3 more sources
PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain. [PDF]
BMC Neurol, 2015 BACKGROUND: LEOPARD syndrome (LS) belongs to the family of neuro-cardio-facio-cutaneous syndromes, which include Neurofibromatosis-1 (NF1), Noonan syndrome, Costello Syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair ...
Spatola M +3 more
europepmc +3 more sources
Pediatric Neurology Briefs, 1989 A 12 year old boy with multiple lentigines (Leopard) syndrome in association with Gerstmann syndrome and CT abnormalities is reported from the Department of Pediatrics and Pediatric Neurology, Beilinson Medical Center, Petah Tikva and Tel Aviv University,
J Gordon Millichap
doaj +3 more sources
LEOPARD SYNDROME. FAMILIAL CASES [PDF]
Romanian Journal of Pediatrics, 2014 LEOPARD syndrome is a complex disorder characterized by multiple dysmorphogenetic features. Both syndromes LEOPARD and Noonan are caused by different mutations in the same gene (PTPN11). Authors emphasize diagnosis peculiarities in two related cases with
Sorin Ioan Iurian +3 more
doaj +2 more sources
Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations. [PDF]
Biochemistry, 2014 The Src homology 2 (SH2) domain-containing protein tyrosine phosphatase 2 (SHP2) is a critical signal transducer downstream of growth factors that promotes the activation of the RAS-ERK1/2 cascade.
Yu ZH +7 more
europepmc +4 more sources