Identification and Functional Characterization of a Novel Variant in the <i>SEMA3A</i> Gene in a Chinese Family with Kallmann Syndrome

<div>The Chinese family with KS in our study. (a) Pedigree of the family with SEMA3A variant. Squares: males; circles: females; filled symbol: affected; unfilled symbol: unaffected; arrows: proband. (b) Partial DNA sequence diagram of SEMA3A in our case. A novel heterozygous variant (c.814G &gt; <i>T</i>) in SEMA3A of II-4 and III-1 was identified by WES, causing the substitution of aspartic acid with tyrosine in codon 272, as shown by an arrow.</div>

International Journal of Endocrinology

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Figure 2: Identification and Functional Characterization of a Novel Variant in the <i>SEMA3A</i> Gene in a Chinese Family with Kallmann Syndrome 

International Journal of Endocrinology

Identification and Functional Characterization of a Novel Variant in the SEMA3A Gene in a Chinese Family with Kallmann Syndrome

Figure 2