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Medientyp:
E-Artikel
Titel:
An Endocrinological approach to Cornelia de Lange Syndrome
Beteiligte:
Iancu, Mirela Elena;
Albu, Alice Ioana;
Vlad, Raluca Maria;
Albu, Dragos Nicolae
Erschienen:
AMALTEA Medical Publishing House, 2022
Erschienen in:
Romanian Journal of Pediatrics, 71 (2022) 1, Seite 5-8
Sprache:
Ohne Angabe
DOI:
10.37897/rjp.2022.1.1
ISSN:
1454-0398;
2069-6175
Entstehung:
Anmerkungen:
Beschreibung:
Cornelia de Lange syndrome is a developmental disorder with a great degree of clinical and genetical variability characterized by typical facial features, growth impairment and multi-organ anomalies. It is caused by mutations in the cohesin complex that is involved in regulation of gene expression. Growth disturbances are a major feature of the syndrome and have various underlying mechanisms. Other associations regarding endocrine function are represented by disturbances in the hypothalamic-pituitary axis, decreased bone density associated with fractures and genital malformations associated with menstrual irregularities and altered fertility.