<i>PTPN11</i> and <i>FLNA</i> variants in a boy with ambiguous genitalia, short stature, and non-specific dysmorphic features
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Published:2024
Issue:3
Volume:33
Page:169-173
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ISSN:0918-5739
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Container-title:Clinical Pediatric Endocrinology
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language:en
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Short-container-title:Clin Pediatr Endocrinol
Author:
Muranishi Yuki12, Itonaga Tomoyo3, Ihara Kenji3, Katoh-Fukui Yuko1, Tamaoka Satoshi1, Hattori Atsushi1, Kon Masafumi2, Shinohara Nobuo2, Fukami Maki1
Affiliation:
1. Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan 2. Department of Renal and Genitourinary Surgery, Hokkaido University Graduate School of Medicine, Sapporo, Japan 3. Department of Pediatrics, Oita University Faculty of Medicine, Yufu, Japan
Publisher
Japanese Society for Pediatric Endocrinology
Reference19 articles.
1. 1. Roberts, AE. Noonan syndrome. [updated 2022 Feb 17]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW et al. editors. GeneReviews®[Internet] 2001. Seattle (WA): University of Washington, Seattle; 1993–2023. 2. 2. Romano, AA, Allanson, JE, Dahlgren, J, Gelb, BD, Hall, B, Pierpont, ME, et al. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics 2010;126: 746–59. 3. 3. Domenice, S, Batista, RL, Arnhold, IJP, Sircili, MH, Costa, EMF, Mendonca, BB. 46,XY differences of sexual development. 2022. In: Feingold KR, Anawalt B, Blackman MR, Boyce A, Chrousos G, Corpas E, et al. editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000–. 4. 4. Athota, JP, Bhat, M, Nampoothiri, S, Gowrishankar, K, Narayanachar, SG, Puttamallesh, V, et al. Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations. BMC Med Genet 2020;21: 50. 5. 5. Ea, V, Bergougnoux, A, Philibert, P, Servant-Fauconnet, N, Faure, A, Breaud, J, et al. How far should we explore hypospadias? next-generation sequencing applied to a large cohort of hypospadiac patients. Eur Urol 2021;79: 507–15.
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