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Article

Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS.

American journal of medical genetics. Part A - 1 Sept 2020

Franciskovich Rachel, Soler-Alfonso Claudia, Neira-Fresneda Juanita, Lupski James R, McCann-Crosby Bonnie, Potocki Lorraine

Abstract excerpt

Potocki-Lupski Syndrome (PTLS, MIM 610883), or duplication of chromosome 17p11.2, is a clinically recognizable condition characterized by infantile hypotonia, failure to thrive, developmental delay, intellectual disability, and congenital anomalies. Short stature, classified as greater than two standard deviations below the mean, has not previously been considered a major feature of PTLS. Retrospective chart...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32656927
DOI: 10.1002/ajmg.a.61741
PMCID: PMC8445515

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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