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

Zombor Melinda, Kalmár Tibor, Maróti Zoltán, Zimmermann Aliz, Máté Adrienn, Bereczki Csaba, 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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Item Type: Article
Journal or Publication Title: JOURNAL OF HUMAN GENETICS
Date: 2018
Volume: 63
Number: 11
Page Range: pp. 1189-1193
ISSN: 1434-5161
Faculty: Általános Orvostudományi Kar
Institution: Szegedi Tudományegyetem
SWORD language: Angol
Identification Number: 30316417
DOI id: 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

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