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Quoted phrase not found in phrase index: "Facial dysmorphism-immunodeficiency-livedo-short stature syndrome"
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Abnormalities of pubertal development and gonadal function in Noonan syndrome.
Patti G, Scaglione M, Maiorano NG, Rosti G, Divizia MT, Camia T, De Rose EL, Zucconi A, Casalini E, Napoli F, Di Iorgi N, Maghnie M. Patti G, et al. Front Endocrinol (Lausanne). 2023 Jul 28;14:1213098. doi: 10.3389/fendo.2023.1213098. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37576960 Free PMC article.
BACKGROUND: Noonan syndrome (NS) is a genetic multisystem disorder characterised by variable clinical manifestations including dysmorphic facial features, short stature, congenital heart disease, renal anomalies, lymphatic malformations, chest deformities, cr …
BACKGROUND: Noonan syndrome (NS) is a genetic multisystem disorder characterised by variable clinical manifestations including dysmor …
Growth assessment in children with Williams-Beuren syndrome: a systematic review.
de Sousa Lima Strafacci A, Fernandes Camargo J, Bertapelli F, Guerra Júnior G. de Sousa Lima Strafacci A, et al. J Appl Genet. 2020 May;61(2):205-212. doi: 10.1007/s13353-020-00551-x. Epub 2020 Mar 10. J Appl Genet. 2020. PMID: 32157657
It is characterized by distinctive facial appearance, cardiopathy, short stature, intellectual disability, and endocrine abnormalities. ...Original articles and articles that evaluated growth status using weight, or height, or head circumference (HC), or b …
It is characterized by distinctive facial appearance, cardiopathy, short stature, intellectual disability, and endocrine abnor …