• A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome
• A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs
• A new missense variant in RAB3GAP2 in a family with muscular dystrophy-short stature and defective autophagy: An expansion of the micro/Martsolf spectrum or a new phenotype?
• Advanced Practice Provider Clinics: Expediting Care For Children Undergoing Tympanostomy Tube Placement
• Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?
• Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease
• Hypogonadotropic hypogonadism due to variants in <em>RAB3GAP2</em>: expanding the phenotypic and genotypic spectrum of Martsolf syndrome
• Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome
• ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy
• Loss-of-function mutations in RAB18 cause Warburg micro syndrome
• Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran
• Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights
• Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome
• Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report
• Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders
• RAB18 Deficiency
• RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes
• Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes