A novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature

We report a novel 9q31.2q32 (chr9: 109195179‐113974353, hg 18) microdeletion characterized by fatigue, muscle cramps, short stature, delayed puberty, sensorineural hearing loss, and mild developmental delay. Overlapping microdeletions reported in this region also demonstrate facial dysmorphism, skel...

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Detalles Bibliográficos
Autores principales: Ramineni, Anand K., Burgess, Trent, Cruickshanks, Penny, Coman, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389485/
https://www.ncbi.nlm.nih.gov/pubmed/30847195
http://dx.doi.org/10.1002/ccr3.1970

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389485/
https://www.ncbi.nlm.nih.gov/pubmed/30847195
http://dx.doi.org/10.1002/ccr3.1970

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