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Article

Higher CNV Frequencies in Chromosome 14 of Girls With Turner Syndrome Phenotype.

The Journal of clinical endocrinology and metabolism - 19 Nov 2021

Purwar Naincy, Tiwari Pradeep, Mathur Nitish, Sharma Himanshu, Sahlot Rahul, Garg Umesh, Sharma Balram, Saxena Aditya, Mathur Sandeep K

Abstract excerpt

CONTEXT: Precise genotype-phenotype correlations in Turner syndrome (TS) have not yet been deciphered. The chromosomal basis of the clinical TS phenotype in the absence of X chromosome aberrations on conventional karyotyping remains more and less unexplored. OBJECTIVE: To elucidate the high-resolution chromosomal picture and analyze the genotype-phenotype associations in girls with clinical phenotype of TS by...

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Source

Identifiers

PMID: 34333639
DOI: 10.1210/clinem/dgab572

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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