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Noonan syndrome with multiple lentigines (NSML) which is part of a group called Ras/MAPK pathway syndromes, [2] is a rare autosomal dominant, [3] multisystem disease caused by a mutation in the protein tyrosine phosphatase, non-receptor type 11 gene . The disease is a complex of features, mostly involving the skin, skeletal and cardiovascular ...
Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. [1]
Download as PDF; Printable version; In other projects Wikidata item; ... Noonan syndrome with multiple lentigines or Peutz–Jeghers syndrome. See also. Lentigo;
Carney complex and its subsets LAMB syndrome [1] and NAME syndrome [1] are autosomal dominant conditions comprising myxomas of the heart and skin, hyperpigmentation of the skin (lentiginosis), and endocrine overactivity. [2] [3] It is distinct from Carney's triad. Approximately 7% of all cardiac myxomas are associated with Carney complex. [4]
Lentigo in cats is a common dermatological condition characterized by the presence of small, flat, brownish spots on the skin — particularly around the lips, nose, and eyelid margins. Unlike in ...
Peeling skin syndrome (acral peeling skin syndrome, continual peeling skin syndrome, familial continual skin peeling, idiopathic deciduous skin, keratolysis exfoliativa congenita) Pfeiffer syndrome; Photosensitivity–ichthyosis–brittle sulfur-deficient hair–impaired intelligence–decreased fertility–short stature syndrome
"A Certain Idea of America: Selected Writings" by Peggy Noonan (Portfolio), in Hardcover, eBook and Audio formats, available November 19Peggy Noonan, Wall Street Journal Extended interview: Cher
Noonan syndrome with multiple lentigines (NSML), formerly called LEOPARD syndrome SYNGAP1-related intellectual disability Somatic mutations in the Ras/MAPK pathway can cause cancers and disorders such as RAS-associated autoimmune leukoproliferative disorder (RALD) or juvenile myelomonocytic leukemia (JMML).