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CEDNIK syndrome information


Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome
Other namesCEDNIK syndrome[1]
SpecialtyDermatology

Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome is a neurocutaneous condition caused by mutation in the SNAP29 gene.[2]

  1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: CEDNIK syndrome". www.orpha.net. Retrieved 18 May 2019.{{cite web}}: CS1 maint: numeric names: authors list (link)
  2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.

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CEDNIK syndrome

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dysgenesis–neuropathy–ichthyosis–keratoderma syndrome is a neurocutaneous condition caused by mutation in the SNAP29 gene. CEDNIK syndrome is a rare congenital condition...

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List of genetic disorders

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deficiency disorder". MedlinePlus. Retrieved 7 June 2021. "Orphanet: CEDNIK syndrome". Retrieved 8 May 2021. NIH Intramural Sequencing Center Group; Sloan...

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Inherited disorders of trafficking

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They were characterized in 1975. CEDNIK syndrome (Cerebral Dysgenesis, Neuropathy, Ichthyosis and Keratoderma Syndrome) is a rare inherited genetic skin...

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Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome

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retinoids is successful, but if treatment is stopped, symptoms recur. CEDNIK syndrome List of cutaneous conditions Rapini, Ronald P.; Bolognia, Jean L.;...

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Dolichol kinase deficiency

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gene. It is also known as Congenital disorder of glycosylation 1m. CEDNIK syndrome List of cutaneous conditions RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet:...

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SNAP29

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SNAP29 was shown to interact with CVB3 and EV-D68 viral protease 3C. CEDNIK Syndrome GRCh38: Ensembl release 89: ENSG00000099940 – Ensembl, May 2017 GRCm38:...

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