Increased homozygosity in the first Hispanic patient with plantar lipomatosis, unusual facies, and developmental delay (Pierpont syndrome): a case report

BACKGROUND: Pierpont syndrome was first described in 1998 with key characteristics including developmental delay, dysmorphic facial features, fat pads on hands and feet, and feeding difficulties. To date the mechanism of inheritance is unknown. Nine out of ten previously described patients with Pier...

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Detalles Bibliográficos
Autores principales: O’Keefe, Siobhán, Wefuan, Dieter T., Humberson, Jennifer B., Schmidt, Karen, Wiley, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4982123/
https://www.ncbi.nlm.nih.gov/pubmed/27520388
http://dx.doi.org/10.1186/s13256-016-0997-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4982123/
https://www.ncbi.nlm.nih.gov/pubmed/27520388
http://dx.doi.org/10.1186/s13256-016-0997-1

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