Zobrazeno 1 - 2
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pro vyhledávání: '"R. M. Mbwasi"'
Autor:
M. C. J. Dekker, A. M. Sadiq, R. Mc Larty, R. M. Mbwasi, M. A. A. P. Willemsen, H. R. Waterham, B. C. Hamel
Publikováno v:
Case Reports in Genetics, Vol 2019 (2019)
Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder with classical features, which can be also recognised in a low resource setting. It had been described in various populations across the globe, but very few cases have been reported from
Externí odkaz:
https://doaj.org/article/10af2e8b1c1b4ed188eed8f1a5affa66
Publikováno v:
Case Reports in Genetics, Vol 2017 (2017)
We report a case of a male baby who has characteristic signs of Freeman–Sheldon syndrome, a rare but recognizable, severe autosomal dominant form of distal arthrogryposis. Diagnosis was based on the distinctive clinical characteristics of the syndr
Externí odkaz:
https://doaj.org/article/498420f4cc9244cea32ddc06621a2ec8