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Page 1
Exome Sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes.
Martinez-Mayer J, Vishnopolska S, Perticarari C, Garcia LI, Hackbartt M, Martinez M, Zaiat J, Jacome-Alvarado A, Braslavsky D, Keselman A, Bergadá I, Marino R, Ramírez P, Garrido NP, Ciaccio M, Di Palma MI, Belgorosky A, Forclaz MV, Benzrihen G, D'Amato S, Cirigliano ML, Miras M, Nuñez AP, Castro L, Mallea-Gil MS, Ballarino C, Latorre-Villacorta L, Casiello AC, Hernandez C, Figueroa V, Alonso G, Morin A, Guntsche Z, Lee H, Lee E, Song Y, Marti MA, Perez-Millan MI. Martinez-Mayer J, et al. Among authors: song y. J Clin Endocrinol Metab. 2024 May 8:dgae320. doi: 10.1210/clinem/dgae320. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 38717911
A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review.
Mir A, Song Y, Lee H, Montazer-Zohouri M, Reisi M, Tabatabaiefar MA. Mir A, et al. Among authors: song y. Mol Genet Genomic Med. 2023 Dec;11(12):e2261. doi: 10.1002/mgg3.2261. Epub 2023 Jul 26. Mol Genet Genomic Med. 2023. PMID: 37496384 Free PMC article. Review.
28 results