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UnknownKnobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree.
Not available
S-EPMC6010381 | biostudies-literature
UnknownHomozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.
Not available
S-EPMC4231049 | biostudies-literature
UnknownKnobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic COL18A1 Mutation: Case-Based Review.
Not available
S-EPMC9848758 | biostudies-literature
UnknownA <i>de novo</i> variant in <i>PAK2</i> detected in an individual with Knobloch type 2 syndrome.
Not available
S-EPMC11071314 | biostudies-literature
UnknownMolecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome.
Not available
S-EPMC378571 | biostudies-literature
UnknownAlterations in RD(INK4/ARF) -mediated en bloc regulation of the INK4-ARF locus in human squamous cell carcinoma of the head and neck.
Not available
S-EPMC4102663 | biostudies-literature
UnknownAn Early Diagnostic Clue for COL18A1- and LAMA1-Associated Diseases: High Myopia With Alopecia Areata in the Cranial Midline.
Not available
S-EPMC8267009 | biostudies-literature
UnknownRisk compensation and face mask mandates during the COVID-19 pandemic.
Not available
S-EPMC7862259 | biostudies-literature
UnknownThe Clinical Findings, Pathogenic Variants, and Gene Therapy Qualifications Found in a Leber Congenital Amaurosis Phenotypic Spectrum Patient Cohort.
Not available
S-EPMC10816538 | biostudies-literature
UnknownInherited alterations of TGF beta signaling components in Appalachian cervical cancers.
Not available
S-EPMC6768402 | biostudies-literature
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