X-linked recessive Kallmann syndrome: A case report

doi:10.12998/wjcc.v10.i25.8990

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World Journal of Clinical Cases

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Clin Cases. Sep 6, 2022; 10(25): 8990-8997
Published online Sep 6, 2022. doi: 10.12998/wjcc.v10.i25.8990

Table 3 Patient’s genetic test results

Gene	Nucleotide variation	Amino acid variation	Functional change	Type of mutation	Genetic mode	Clinical significance	Related diseases
KAL-1-ex5	c612G>A	P.Trp204Ter	Nonsense	Hemizygous	XLD	Pathogenic	Kallmann
NM-000216			Mutation				Syndrome type 1

XLD: X-linked recessive inheritance.

Citation: Zhang P, Fu JY. X-linked recessive Kallmann syndrome: A case report. World J Clin Cases 2022; 10(25): 8990-8997
URL: https://www.wjgnet.com/2307-8960/full/v10/i25/8990.htm
DOI: https://dx.doi.org/10.12998/wjcc.v10.i25.8990