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Medical genetics / Genetic testing / Cartilage–hair hypoplasia / Prenatal diagnosis / Medicine / Genodermatoses / Health


(TO BE CONFIRMED) Molecular Genetics Service Profile Cartilage-Hair Hypoplasia (CHH) Introduction CHH (Metaphyseal Dysplasia type McKusick) (OMIM Nos[removed], 250460, [removed]is an autosomal recessive chondrodysplasia w
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Document Date: 2009-03-19 12:03:51

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Company

UPS / FedEx / /

Country

Germany / /

Currency

EUR / /

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Facility

CHH Freiburg University Hospital / /

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IndustryTerm

secure online submission system / /

MedicalCondition

short-limb dwarfism / Cancer / aganglionic megacolon / lymphopenia and impaired T-cell function / infections / neutropenia / anemia / joint laxity / /

Organization

Centre for Pediatrics and Adolescent Medicine / CHH Freiburg University Hospital / /

Person

Ekkehart Lausch / /

/

Position

ESDN Case Manager / ESDN Administrator / /

URL

www.esdn.org_ / www.skeldys.org_ / /

SocialTag