Disease: Cataract mental retardation hypogonadism
- <em>CTDP1</em>-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy
- 49,XXXXY syndrome with autoimmune diabetes and ocular manifestations
- A case of Marinesco-Sjögren syndrome: MRI observations of skeletal muscles, bone metabolism, and treatment with testosterone and risedronate
- A case with central and peripheral hypomyelination with hypogonadotropic hypogonadism and hypodontia (4H syndrome) plus cataract
- A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome
- A homozygous Y443C variant in the RNPC3 is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy
- A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs
- A new case of Martsolf syndrome
- A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton
- A novel mutation in RAB3GAP1 gene in Chinese patient causing the Warburg micro syndrome: A case report
- A novel mutation in the <em>GBA2</em> gene in a Japanese patient with SPG46: A case report
- A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1)
- An infant with short stature and red cheeks (Rothmund-Thomson syndrome)
- Analysis of a case of Warburg micro syndrome type 1 due to variant of RAB3GAP1 gene
- Analysis on the emerging role of Rab3 GTPase-activating protein in Warburg Micro and Martsolf syndrome
- Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism
- Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome
- Brain white matter abnormalities associated with copy number variants
- Case report of 49,XXXXY syndrome with cleft palate, diabetes, hypothyroidism, and cataracts
- Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?
- Cataract, hypertrichosis, and mental retardation (CAHMR): a new autosomal recessive syndrome
- Cataracts with obesity, small stature, oligophrenia, and acromicria (Prader-Labhart-Willi syndrome)
- Children who age rapidly--progeroid syndromes: case report of a new variant
- Chromosomal aberrations and ocular diseases: 54 cases comprising 8 types of anomaly diagnosed by chromosomal analysis
- Clinical characteristics and genetic analysis of an ethnic Han Chinese child with Keppen-Lubinsky syndrome due to a de novo KCNJ6 mutation
- Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome
- Consanguinity as an Adjunct Diagnostic Tool
- Correlation between distribution of muscle weakness, electrophysiological findings and CTG expansion in myotonic dystrophy
- Decompensated liver cirrhosis caused by galactosemia in a 52-year-old man
- Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome
- Delivery of bioactive lipids from composite microgel-microsphere injectable scaffolds enhances stem cell recruitment and skeletal repair
- Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum
- Downregulation of Insulin-Like Growth Factor-1 via Nitric Oxide Production in a Hypergalactosemic Model of Neonate Skin Fibroblast Cultures
- Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease
- Eccrine sweat gland anatomy in cockayne syndrome: a possible diagnostic aid
- ENU mutagenesis identifies mice modeling Warburg Micro Syndrome with sensory axon degeneration caused by a deletion in Rab18
- Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family
- Familial insulin resistant diabetes associated with acanthosis nigricans, polycystic ovaries, hypogonadism, pigmentary retinopathy, labyrinthine deafness, and mental retardation
- From cataract to syndrome diagnosis: Revaluation of Warburg-Micro syndrome Type 1 patients
- Genetic disorders associated with postnatal microcephaly
- Hereditary deafness in man
- Hereditary myopathy, oligophrenia, cataract, skeletal abnormalities and hypergonadotropic hypogonadism; a new syndrome
- Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31
- 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
- Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1
- Loss-of-function mutations in RAB18 cause Warburg micro syndrome
- Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans
- Marinesco-Sjögren syndrome in a male with mild dysmorphism
- Martsolf syndrome
- Martsolf syndrome
- Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance
- Martsolf syndrome in Japanese siblings
- 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
- Micro syndrome in Muslim Pakistan children
- Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome
- Multiple congenital anomalies, mental retardation and hypogonadotropic hypogonadism in a boy with small marker chromosomes
- Muscle pathology in Marinesco-Sjögren syndrome
- Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome
- Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome
- Myotonic dystrophy and its differential diagnosis
- Myotonic Dystrophy Type 1
- New case of Primrose syndrome with mild intellectual disability
- New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish
- Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report
- Novel mutation in the RAB3GAP1 gene, the first diagnosed Warburg Micro syndrome case in Syria
- Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome
- Other autosomal recessive and childhood ataxias
- Phenotypic variability in Micro syndrome: report of new cases
- Prader-Willi syndrome
- Progressive neuromuscular and skeletal disorders in a male with an acrocentric supernumerary chromosome
- Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders
- Rab18 Collaborates with Rab7 to Modulate Lysosomal and Autophagy Activities in the Nervous System: an Overlapping Mechanism for Warburg Micro Syndrome and Charcot-Marie-Tooth Neuropathy Type 2B
- RAB18 Deficiency
- RAB18, a protein associated with Warburg Micro syndrome, controls neuronal migration in the developing cerebral cortex
- Rab18: new insights into the function of an essential protein
- RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes
- RECURRENT RAB3GAP1 MUTATIONS IN THE TURKISH POPULATION
- Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes
- Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity
- Rothmund-Thomson syndrome. A case report, phototesting, and literature review
- Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers
- Sodium hydrosulfide reverses β<sub>2</sub>-microglobulin-induced depressive-like behaviors of male Sprague-Dawley rats: Involving improvement of synaptic plasticity and enhancement of Warburg effect in hippocampus
- Syndrome of pigmentary retinal degeneration, cataract, microcephaly, and severe mental retardation
- The Alström syndrome: is it a rare or unknown disease?
- The Alström syndrome: ophthalmic histopathology and retinal ultrastructure
- THE ENDOCRINE CATARACTS
- The Tay syndrome (congenital ichthyosis with trichothiodystrophy)
- The Warburg Micro Syndrome-associated Rab3GAP-Rab18 module promotes autolysosome maturation through the Vps34 Complex I
- Three mildly retarded siblings with congenital cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature: a new syndrome?
- Treatment of the poikilodermatous component of the Rothmund-Thomson syndrome with the flashlamp-pumped pulsed dye laser: a case report
- Warburg Micro syndrome
- Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping
- Warburg micro syndrome in two children from a highly inbred Turkish family
- Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation
- Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy
- Warburg-Micro syndrome caused by 1q43-q44 deletion: genotypic and phenotypic analysis in a child
- X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation, spasticity: possible new syndrome