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Autor:
Hideaki Iizuka, Shigehiko Kawakami, Yuuki Yaguchi, Tesuo Ozawa, Kenji Yamamoto, Jun Yoshida, Hiroaki Kakinuma, Takuya Akai
Publikováno v:
Pediatric Neurosurgery. 42:108-112
This paper reports a new type of syndromic craniosynostosis that was diagnosed by DNA analysis of the patient’s fibroblast growth factor receptor (FGFR) genes. At birth, a male infant had ocular proptosis, a pseudotail, and obstructed respiration.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f7f6384932173d1094608929bea5657
https://doi.org/10.1159/000090465
https://doi.org/10.1159/000090465
