Correlation of Genotype and Perinatal Period, Time of Diagnosis and Anthropometric Data before Commencement of Recombinant Human Growth Hormone Treatment in Polish Patients with Prader–Willi Syndrome

Genotype–phenotype correlation in patients with Prader–Willi syndrome (PWS) has still not been fully described. We retrospectively analysed data of 147 patients and compared groups according to genetic diagnosis: paternal deletion of chromosome 15q11-q13 (DEL 15, n = 81), maternal uniparental disomy...

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Detalles Bibliográficos
Autores principales: Lecka-Ambroziak, Agnieszka, Wysocka-Mincewicz, Marta, Doleżal-Ołtarzewska, Katarzyna, Zygmunt-Górska, Agata, Żak, Teresa, Noczyńska, Anna, Birkholz-Walerzak, Dorota, Stawerska, Renata, Hilczer, Maciej, Obara-Moszyńska, Monika, Rabska-Pietrzak, Barbara, Gołębiowska, Elżbieta, Dudek, Adam, Petriczko, Elżbieta, Szalecki, Mieczysław
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8145028/
https://www.ncbi.nlm.nih.gov/pubmed/33925106
http://dx.doi.org/10.3390/diagnostics11050798

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8145028/
https://www.ncbi.nlm.nih.gov/pubmed/33925106
http://dx.doi.org/10.3390/diagnostics11050798

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