Warburg Micro syndrome is a rare autosomal recessive disease due to pathogenic variants found most commonly in the RAB3GAP1 gene. It is commonly seen in consanguineous marriages and is characterized by optic, neurologic, endocrinologic and some non-typical findings (cardiomyopathy, peripheral neuropathy). Here, we report two male patients from healthy consanguineous and non- consanguineous carrier parents, with homozygous variants of the RAB3GAP1 gene, presenting with bilateral congenital cataracts, hypogonadism, hypotonia and developmental delay. The first case had a novel variant and had colpocephaly as shown in his MRI brain, which has not been previously reported in the medical literature. The second case was thought to have a founder m...
Purpose: Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by conge...
Purpose: Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by conge...
We identified a homozygous missense mutation in the noncatalytic subunit (RAB3GAP2) of RAB3GAP that ...
Warburg-Micro syndrome (WARBM) is a rare autosomal recessively inherited neuro-ophthalmologic syndro...
We report a 4-year-old Turkish boy with Warburg Micro syndrome born to consanguineous parents. He ha...
Warburg Micro syndrome (WARBM) is an autosomal recessive neuro-ophthalmologic syndrome characterized...
Abstract In this study, we detected a novel pathogenic variant and a previously reported variant in ...
The Warburg micro syndrome (WARBM) is a genetically heterogeneous syndrome linked to at least 4 loci...
Purpose: Martsolf (MS) and Warburg micro syndromes (WARBM) are rare autosomal recessive inherited al...
Warburg micro syndrome (WARBM) is a rare autosomal recessive disorder characterized by microcephaly,...
Warburg Micro syndrome (WARBM1) is a severe autosomal recessive disorder characterized by developmen...
Warburg Micro syndrome and Martsolf syndrome are heterogenous autosomal-recessive developmental diso...
Warburg Micro syndrome and Martsolf syndrome are heterogenous autosomal-recessive developmental diso...
BACKGROUND: Three rare autosomal recessive disorders share the combination of congenital muscular dy...
Micro syndrome (OMIM 60018) and Martsolf syndrome (OMIM 21270) are related rare autosomal recessive ...
Purpose: Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by conge...
Purpose: Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by conge...
We identified a homozygous missense mutation in the noncatalytic subunit (RAB3GAP2) of RAB3GAP that ...
Warburg-Micro syndrome (WARBM) is a rare autosomal recessively inherited neuro-ophthalmologic syndro...
We report a 4-year-old Turkish boy with Warburg Micro syndrome born to consanguineous parents. He ha...
Warburg Micro syndrome (WARBM) is an autosomal recessive neuro-ophthalmologic syndrome characterized...
Abstract In this study, we detected a novel pathogenic variant and a previously reported variant in ...
The Warburg micro syndrome (WARBM) is a genetically heterogeneous syndrome linked to at least 4 loci...
Purpose: Martsolf (MS) and Warburg micro syndromes (WARBM) are rare autosomal recessive inherited al...
Warburg micro syndrome (WARBM) is a rare autosomal recessive disorder characterized by microcephaly,...
Warburg Micro syndrome (WARBM1) is a severe autosomal recessive disorder characterized by developmen...
Warburg Micro syndrome and Martsolf syndrome are heterogenous autosomal-recessive developmental diso...
Warburg Micro syndrome and Martsolf syndrome are heterogenous autosomal-recessive developmental diso...
BACKGROUND: Three rare autosomal recessive disorders share the combination of congenital muscular dy...
Micro syndrome (OMIM 60018) and Martsolf syndrome (OMIM 21270) are related rare autosomal recessive ...
Purpose: Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by conge...
Purpose: Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by conge...
We identified a homozygous missense mutation in the noncatalytic subunit (RAB3GAP2) of RAB3GAP that ...