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Items: 2

1.
A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts
Hesham Aldhalaan, Albandary AlBakheet, Sarah AlRuways, Nouf AlMutairi, Maha AlNakiyah, Reema AlGhofaili, Kelly J. Cardona-Londoño, Khalid Omar Alahmadi, Hanan AlQudairy, Maha M. AlRasheed, Dilek Colak, Stefan T. Arold, Namik Kaya
Genes (Basel) 2022 Jan; 13(1): 92. Published online 2021 Dec 30. doi: 10.3390/genes13010092
PMCID:
PMC8774908
AbstractArticlePDF–2.6M
2.
Necropsy of original case of Lowry's syndrome.
C L Dolman, V J Wright
J Med Genet. 1978 Jun; 15(3): 227–229. doi: 10.1136/jmg.15.3.227
PMCID:
PMC1013683
SummaryPage BrowsePDF–907K

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