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Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability

Zombor Melinda and Kalmár Tibor and Maróti Zoltán and Zimmermann Aliz and Máté Adrienn and Bereczki Csaba and Sztriha László: Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability.
JOURNAL OF HUMAN GENETICS, 63 (11). pp. 1189-1193. ISSN 1434-5161 (2018)

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Creators:
Zombor Melinda MTMT
Kalmár Tibor MTMT
Maróti Zoltán MTMT
Zimmermann Aliz MTMT
Máté Adrienn MTMT
Bereczki Csaba MTMT
Sztriha László MTMT
Item Type: Journal Article
Journal or Publication Title: JOURNAL OF HUMAN GENETICS
Date: 2018
Volume: 63
Number: 11
Page Range: pp. 1189-1193
ISSN: 1434-5161
Faculty/Unit: Faculty of Medicine
Institution: University of Szeged (2000-)
Language: English
MTMT rekordazonosító: 30316417
DOI azonosító: https://doi.org/10.1038/s10038-018-0508-x
Date Deposited: 2019. Apr. 10. 08:52
Last Modified: 2019. Apr. 10. 08:52
URI: http://publicatio.bibl.u-szeged.hu/id/eprint/15082
Web of Science® Times Cited: 2 View citing articles in Web of Science®

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