Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Franny Faes"'
Autor:
Agnieszka Prytuła, Sophie Walraedt, Kathleen De Waele, Bram De Wilde, Sara David, Franny Faes, Olivier Vanakker
Publikováno v:
Acta Clinica Belgica. 74:460-464
We describe a boy who presented with neonatal hypotonia, followed by delayed motor development and growth impairment. Further evaluation revealed rickets caused by proximal renal tubular dysfunction. At age 3, the boy exhibited dysmorphic features an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::191d5e230441ed152ad4ba880c127273
https://doi.org/10.1080/17843286.2018.1551743
https://doi.org/10.1080/17843286.2018.1551743
Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability
Autor:
Cédric Le Caignec, Sarah Vergult, Franny Faes, Alfred Meurs, Annelies Dheedene, Bertrand Isidor, Agnès Gautier, Björn Menten, Sandra Janssens
Voltage-gated calcium channels have an important role in neurotransmission. Aberrations affecting genes encoding the alpha subunit of these channels have been associated with epilepsy and neuropsychiatric disorders such as autism or schizophrenia. He
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::305438e7be5fb7e0e8290b7e59d9f482
https://doi.org/10.1038/ejhg.2014.141
https://doi.org/10.1038/ejhg.2014.141
