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A homozygous ABHD16A variant causes a complex hereditary sp..:
Miyake, Noriko
;
Silva, Sebastián
;
Troncoso, Mónica
...
Clinical Genetics. 101 (2021) 3 - p. 359-363 , 2021
Link:
https://doi.org/10.1111/cge.14097
RT Journal T1
A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face
UL https://suche.suub.uni-bremen.de/peid=cr-10.1111_cge.14097&Exemplar=1&LAN=DE A1 Miyake, Noriko A1 Silva, Sebastián A1 Troncoso, Mónica A1 Okamoto, Nobuhiko A1 Andachi, Yoshiki A1 Kato, Mitsuhiro A1 Iwabuchi, Chisato A1 Hirose, Mio A1 Fujita, Atsushi A1 Uchiyama, Yuri A1 Matsumoto, Naomichi PB Wiley YR 2021 SN 0009-9163 SN 1399-0004 JF Clinical Genetics VO 101 IS 3 SP 359 OP 363 LK http://dx.doi.org/https://doi.org/10.1111/cge.14097 DO https://doi.org/10.1111/cge.14097 SF ELIB - SuUB Bremen
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