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The male phenotype in osteopathia striata congenita with cranial sclerosis.
Am J Med Genet A. 2011 Oct;155A(10):2397-408. doi: 10.1002/ajmg.a.34178.
Am J Med Genet A. 2011.
PMID: 22043478
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF; SOGRI Consortium; Lapunzina P.
Tenorio J, et al.
Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4.
Eur J Hum Genet. 2020.
PMID: 31685998
Free PMC article.
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