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SOUHEIR SAKER, MD
MD
Pediatrics Physician
NPI: 1457527004Individual
Specialties, Licenses & Credentials
Pediatrics PhysicianPrimary
Pediatrics
Code: 208000000X
091616(OH)
Research & Publications (6)
An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism.
PMID 19194475·J Invest Dermatol·2009
8-other
A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model.
PMID 18185537·J Invest Dermatol·2008
8-other
Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13.
PMID 17139268·J Invest Dermatol·2007
8-other
Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis.
PMID 15317751·Hum Mol Genet·2004
8-other
Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes.
PMID 12471054·Hum Mol Genet·2002
7-preclinical
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 29715 NORTH PARK BOULEVARD
SOLON, OH 44139 - Phone
- (330) 519-6733
Quick Facts
- NPI
- 1457527004
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 6
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