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Aplasia/Hypoplasia affecting the eye

MedGen UID:: 870303
•Concept ID:: C4024745
•: Finding

Synonyms:	Absent/small eye; Absent/underdeveloped eye

HPO:	HP:0008056

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAplasia/Hypoplasia affecting the eye

Recent clinical studies

Diagnosis

An intronic alteration of the fibroblast growth factor 10 gene causing ALSG-(aplasia of lacrimal and salivary glands) syndrome.

Scheckenbach K, Balz V, Wagenmann M, Hoffmann TK
BMC Med Genet 2008 Dec 22;9:114. doi: 10.1186/1471-2350-9-114. PMID: 19102732 Free PMC Article

Supplemental Content

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Genetic Testing Registry

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ClinicalTrials.gov

Consumer resources

MedlinePlus

Reviews

Related information

GTR
Related information in GTR
GTR(Clinical)
Clinical tests in GTR
PMC Articles
Related information in PubMed Central Links
PubMed
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