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• W2892777620 endingPage "2027" @default.
• W2892777620 startingPage "2024" @default.
• W2892777620 abstract "Noonan syndrome (NS), the most common of the RASopathies, is a developmental disorder caused by heterozygous germline mutations in genes encoding proteins in the RAS‐MAPK signaling pathway. Noonan‐like syndrome with loose anagen hair (NSLH, including NSLH1, OMIM #607721 and NSLH2, OMIM #617506) is characterized by typical features of NS with additional findings of macrocephaly, loose anagen hair, growth hormone deficiency in some, and a higher incidence of intellectual disability. All NSLH1 reported cases to date have had an SHOC2 c.4A>G, p.Ser2Gly mutation; NSLH2 cases have been reported with a PPP1CB c.146G>C, p.Pro49Arg mutation, or c.166G>C, p.Ala56Pro mutation. True cleft palate does not appear to have been previously reported in individuals with NS or with NSLH. While some patients with NS have had growth hormone deficiency (GHD), other endocrine abnormalities are only rarely documented. We present a female patient with NSLH1 who was born with a posterior cleft palate, micrognathia, and mild hypotonia. Other findings in her childhood and young adulthood years include hearing loss, strabismus, and hypopituitarism with growth hormone, thyroid stimulating hormone (TSH), and gonadotropin deficiencies. The SHOC2 mutation may be responsible for this patient's additional features of cleft palate and hypopituitarism." @default.
• W2892777620 created "2018-10-05" @default.
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• W2892777620 date "2018-09-01" @default.
• W2892777620 modified "2023-09-27" @default.
• W2892777620 title "Cleft palate and hypopituitarism in a patient with Noonan‐like syndrome with loose anagen hair‐1" @default.
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• W2892777620 doi "https://doi.org/10.1002/ajmg.a.40432" @default.
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• W2892777620 hasPublicationYear "2018" @default.
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