RAB18 - Books - NCBI

See RAB18 RAB18, member RAS oncogene family in the Gene database

rab18 in Homo sapiens Mus musculus Rattus norvegicus All 478 Gene records

Results in this book: 7

GeneReviews® [Internet].

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

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Select item 44885701.

RAB18 Deficiency.

Handley M, Sheridan E. 2018 Jan 4.

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Select item 14638662.

Polymicrogyria Overview.

Stutterd CA, Dobyns WB, Jansen A, et al. 2005 Apr 18 [Updated 2018 Aug 16].

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Select item 52408503.

PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome.

Alkhunaizi E, Chitayat D. 2021 Sep 9 [Updated 2024 Mar 7].

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Select item 53751544.

EPG5-Related Disorder.

Dafsari HS, Ebrahimi-Fakhari D, Saffari A, et al. 2022 Oct 13.

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Select item 52989885.

WDR62 Primary Microcephaly.

Verloes A, Ruaud L, Drunat S, et al. 2022 Feb 17.

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Select item 14788726.

Cockayne Syndrome.

Laugel V. 2000 Dec 28 [Updated 2019 Aug 29].

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Select item 14589847.

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Show details (1)

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Figure 1.

Photographs of individuals with Warburg micro and Martsolf syndromes
Brothers K2.1 (age 15 years) and K2.2 (age 13 years) with Warburg micro syndrome are homozygous for the RAB3GAP1 p.Thr18Pro variant.
The girl K6.1 (age 13 years) and her brother K6.2 (age 6 years) with Warburg micro syndrome are homozygous for the RAB3GAP1 p.Glu24Val variant.
The boy K48 (age 4 months; age 3 years) with Warburg micro syndrome is homozygous for the RAB3GAP2 c.147G>A p.Trp49Ter variant
The girl K7.1 (age 8 years) and her brother K7.2 (age 4 years) with Martsolf syndrome are homozygous for the p.Asp4ThrTer31 variant.
Sisters K44.1 (age 17 years) and K44.2 (age 14 years) with Martsolf syndrome are homozygous for the RAB3GAP2 p.Arg426Cys variant.
The boy K52 with Warburg micro syndrome is homozygous for the RAB18 p.Thr95Arg variant.
Reused with permission from Handley et al [2013]

RAB18 Deficiency.

Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.

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