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Clinical insights from an unusual Turner syndrome manifestation: Congenital cutis verticis gyrata.
Am J Med Genet A. 2023 Jun;191(6):1669-1671. doi: 10.1002/ajmg.a.63183. Epub 2023 Mar 18.
Am J Med Genet A. 2023.
PMID: 36932882
Review.
A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G>A (p.Arg266Gln) Pathogenic Variant in the TP63 Gene.
Corona-Rivera JR, Rios-Flores IM, Zenteno JC, Peña-Padilla C, Castillo-Reyes K, Bobadilla-Morales L, Corona-Rivera A, Acosta-Fernández E, Bruckman-Jiménez A.
Corona-Rivera JR, et al.
Mol Syndromol. 2024 Feb;15(1):51-57. doi: 10.1159/000531934. Epub 2023 Aug 18.
Mol Syndromol. 2024.
PMID: 38357259
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TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient.
Corona-Rivera JR, Martínez-Duncker I, Morava E, Ranatunga W, Salinas-Marin R, González-Jaimes AM, Castillo-Reyes KA, Peña-Padilla C, Bobadilla-Morales L, Corona-Rivera A, Orozco-Vela M, Brukman-Jiménez SA.
Corona-Rivera JR, et al. Among authors: castillo reyes ka.
Mol Genet Metab. 2024 May;142(1):108469. doi: 10.1016/j.ymgme.2024.108469. Epub 2024 Mar 28.
Mol Genet Metab. 2024.
PMID: 38564972
Review.
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