Influence of molecular classes and growth hormone treatment on growth and dysmorphology in Prader‐Willi syndrome: A multicenter study

Prader‐Willi syndrome (PWS) is a complex genetic disorder with three molecular classes but clinical ascertainment is based on distinctive features. The prevalence of dysmorphic features was studied in 355 PWS participants (61% deletion, 36% maternal disomy [UPD], and 3% imprinting defects) from the...

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Veröffentlicht in:	Clinical genetics 2021-07, Vol.100 (1), p.29-39
Hauptverfasser:	Mahmoud, Ranim, Leonenko, Anna, Butler, Merlin G., Flodman, Pamela, Gold, June‐Anne, Miller, Jennifer L., Roof, Elizabeth, Dykens, Elisabeth, Driscoll, Daniel J., Kimonis, Virginia
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Body Height - genetics Child Child, Preschool Dentition dysmorphology Female Genetic disorders genetic subtypes Genomic imprinting genotype–phenotype growth Growth Hormone - therapeutic use growth hormone treatment Growth hormones Humans Infant Male Middle Aged Phenotype Pigmentation Prader-Willi syndrome Prader-Willi Syndrome - drug therapy Prader-Willi Syndrome - genetics Rare diseases Strabismus Teeth Young Adult
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