Associated Papers
New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra.
Mah-Som AY et al.
Neurology. Genetics, 2021
Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of Glycosylation.
Linders PTA et al.
International Journal of Molecular Sciences, 2020
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
31146700 (PubMed )
Supplement: 12881_2019_813_MOESM1_ESM.xls › CHD7_ChenXiang_query_Report_Fil
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.
McDonald-McGinn DM et al.
Journal of Medical Genetics, 2013
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