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Article

Clinical data and genetic mutation in Kallmann syndrome with CHARGE syndrome: Case report and pedigree analysis.

Medicine - 1 Jul 2018

Wen Jie, Pan Li, Xu Xuan, Wang Jiang, Hu Chen

Abstract excerpt

RATIONALE: This study aimed to investigate the genetic mutation characteristics of Kallmann syndrome (KS) with CHARGE syndrome through the clinical features and genetic analysis of a pediatric patient with KS in one pedigree. PATIENT CONCERNS: Developmental disorders with olfactory abnormalities, developmental lag, heart malformations, external genital malformations. DIAGNOSES: KS combined with some clinical...

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Adolescent
CHARGE Syndrome
DNA-Binding Proteins
DNA Helicases
Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

High-Throughput Nucleotide Sequencing

Kallmann Syndrome

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Open in PubMed Open full text

Identifiers

PMID: 29979396
DOI: 10.1097/MD.0000000000011284
PMCID: PMC6076089

Genes

CHD7

Variants

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Clinical data and genetic mutation in Kallmann syndrome with CHARGE syndrome: Case report and pedigree analysis.PMID 29979396Read ↗

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