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Endocrinological features of a patient with 14q microdeletion and Dubowitz phenotype
BACKGROUND: Dubowitz syndrome (DS) is a complex and rare condition characterized by postnatal growth retardation, microcephaly, short stature, mild developmental delay, facial dysmorphism, skin eruption and bone marrow failure. Though approximately 200 cases have been described so far, no specific g...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2021
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172207/ https://www.ncbi.nlm.nih.gov/pubmed/33788412 http://dx.doi.org/10.1002/mgg3.1644 |