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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
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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
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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
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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
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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
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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
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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
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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
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Cryptosporidium varanii Infection in Captive Leopard Gecko (Eublepharis macularius) and Its Association with Wasting Syndrome in Thailand [PDF]
AnimalsCryptosporidiosis is a globally important protozoan disease that causes severe gastrointestinal illness in immunocompromised humans and animals and has been associated with chronic wasting and death in reptiles.
Panasaya Nipithakul +5 more
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mTOR pathway in human cardiac hypertrophy caused by LEOPARD syndrome: a different role compared with animal models? [PDF]
Orphanet Journal of Rare Diseases, 2019 Background Animal studies suggested that blocking the activation of the mammalian target of rapamycin (mTOR) pathway might be effective to treat cardiac hypertrophy in LEOPARD syndrome (LS) caused by PTPN11 mutations.
Hao Cui +11 more
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