Zobrazeno 1 - 4 of 4 pro vyhledávání: '"Carmen O. Romo-Huerta"'
1
New ocular findings in two sisters with Yunis–Varón syndrome and literature review
Autor: J. Román Corona-Rivera, Luz Consuelo Zepeda-Romero, Carmen O. Romo-Huerta, Sara A. Estrada-Padilla, Feliciano J. Ramos, Eloy López-Marure
Publikováno v: European Journal of Medical Genetics. 54:76-81
The Yunis–Varon syndrome (YVS) represents a rare autosomal recessive syndrome of easy recognition characterized by cleidocraneal dysplasia, absence of thumbs and halluces, distal aphalangia, ectodermal anomalies, and poor outcome. Here, we report t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::259a66cdbec59f36952f349f79a59cdb
https://doi.org/10.1016/j.ejmg.2010.09.013
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2
Abnormal oral-pharyngeal swallowing as cause of morbidity and early death in Stüve-Wiedemann syndrome
Autor: Eloy López-Marure, J. Román Corona-Rivera, Héctor Silva-Báez, Valérie Cormier-Daire, María Inés Estrada-Solorio, Pedro Coello-Ramírez, Nathalie Dagoneau, Carmen O. Romo-Huerta, Liuba M. Aguirre-Salas
Publikováno v: European Journal of Medical Genetics. 52:242-246
Stüve-Wiedemann syndrome (SWS) is an autosomal recessive bone dysplasia (OMIM #601559) characterized by bowing of long bones, camptodactyly, respiratory insufficiency, hyperthermic episodes, and neonatal death from hyperthermia or apnea. We describe
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e5859544747f529dd67e03ca26b5ea9
https://doi.org/10.1016/j.ejmg.2009.04.001
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Plný text Recenzováno Digitální knihovna AV ČR
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