Reanalysis of a novel variant in the IGF1R gene in a family with variable prenatal and postnatal growth retardation and dysmorphic features: benefits and feasibility of IUSM–URDC (Undiagnosed Rare Disease Clinic) program

IGF1R-related disorders are associated with intrauterine growth restriction (IUGR), postnatal growth failure, short stature, microcephaly, developmental delay, and dysmorphic facial features. We report a patient who presented to medical genetics at 7 mo of age with a history of IUGR, poor feeding, m...

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Detalles Bibliográficos
Autores principales: Jacobs, Annalise, Burns, Catherine, Patel, Purva, Treat, Kayla, Helm, Benjamin M., Conboy, Erin, Vetrini, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958911/
https://www.ncbi.nlm.nih.gov/pubmed/35091507
http://dx.doi.org/10.1101/mcs.a006170

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958911/
https://www.ncbi.nlm.nih.gov/pubmed/35091507
http://dx.doi.org/10.1101/mcs.a006170

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