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Both the clients showed extreme renal dysfunction in youth, RP, mild intellectual disability, short stature, and truncal obesity, without dental aberrations and polydactyly. Individual 2 also had hypogonadism. We identified two missense variants in SCLT1, c.[1218G A] and [1631A G], both in the clients by next-generation sequencing. Subsequent cDNA analysis revealed that c.1218G A affected exon 14 skipping in SCLT1. Up to now, SCLT1 h
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