Osteogenesis imperfecta type

An X-linked recessive sub-type of osteogenesis imperfecta caused by mutation(s) in the MBTPS2 gene, encoding membrane-bound transcription factor site-2 protease. It is characterized by prenatal fractures and osteopenia, with severe short stature in adulthood. Variable dysmorphic features may occur including scoliosis, pectal deformity, and anterior angulation of the tibia.

Disease Alternative Name

oi19
osteogenesis imperfecta type xix
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MUMBAI
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Rachana Hospital

Director

Seth GSMC AND KEMH

MD DNB DCH

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Ranchi
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Gennextpolyclinic.com/blog and Others

20 Yrs Post Md Experience. Md .mrcpch(london) Pediatric Consultant .ranchi.jharkhand.

Mbbs Rims.ranchi Md.pmch.patna. Mrcpch (london)

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Imphal, Manipur
529 followers

Adichunchanagiri Institute of Medical Sciences

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29 followers

ESIC , Gulbarga

MD General medicine

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Hyderabad
861 followers

Senior Consultant Internal Medicine & Critical Care, Program Director for DNB Internal Medicine.

Mediciti Hospital

Southern Illinois University School Of Medicine

MD

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