JA
Distinguished
in SHORT Syndrome
Check Jeanne Amiel's experience treating your condition:
About Jeanne Amiel

Jeanne Amiel practices in Paris, France. Amiel is rated as a Distinguished expert by MediFind in the treatment of SHORT Syndrome. She is also highly rated in 52 other conditions, according to our data. Her top areas of expertise are Micrognathia, Pierre Robin Sequence, Acrofacial Dysostosis Nager Type, and Treacher Collins Syndrome.

Her clinical research consists of co-authoring 211 peer reviewed articles in the past 15 years. In particular, she has co-authored 3 articles in the study of SHORT Syndrome.

Locations
Paris, FR
Other Locations
Paris, 11, FR
Nice, 93 06000, FR
Background & Education
Gender
Female
Clinical Research

Clinical research consists of overseeing clinical studies of patients undergoing new treatments and therapies, and publishing articles in peer reviewed medical journals. Experts who actively participate in clinical research are generally at the forefront of the fields and aware of the most up-to-date advances in treatments for their patients.


210 Total Publications

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
Summary: Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.


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