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pro vyhledávání: '"María Teresa, Gómez Fernández"'
Autor:
I, Irene Díez García-Prieto, Sara, Lopez-Martín, Jacobo, Albert, Mar, Jiménez de la Peña, Daniel Martín, Fernández-Mayoralas, Beatriz, Calleja-Pérez, María Teresa, Gómez Fernández, Sara, Álvarez, Taina, Pihlajaniemi, Valerio, Izzi, Alberto, Fernández-Jaén
COL18A1 gene mutations have been associated with Knobloch syndrome, which is characterized by ocular and brain abnormalities. Here we report a 4.5 years-old male child with autism and two novel COL18A1 mutations (NM_030582.4: c.1883_1891dup and c.178
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e1c0b412f64bd88586b4d7b55ef7bc9
http://urn.fi/urn:nbn:fi-fe2022042730802
http://urn.fi/urn:nbn:fi-fe2022042730802
