Title : Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants.

Pub. Date : 2018 Jun

PMID : 29696773






1 Functional Relationships(s)
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Protein Name
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1 A homozygous, missense variant in tryptophan hydroxylase 1 may be clinically important as this gene encodes the rate limiting step in serotonin biosynthesis, a biologic pathway connected with mood disorders. Serotonin tryptophan hydroxylase 1 Homo sapiens