mélange effectuer porter marshall syndrome Consommer Foule en cours
Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes | Pediatric Research
Phenotype and natural history in Marshall–Smith syndrome - Shaw - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library
Home - marshallsmith.org
A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype–phenotype correlations in type XI collagenopathies - Majava - 2007 - American Journal of Medical
Marshall Syndrome Associated with a Splicing Defect at the COL11A1 Locus - ScienceDirect
Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum | Human Genome Variation
Home - marshallsmith.org
Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss | Journal of Medical Genetics
Marshall syndrome
Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes - ScienceDirect
Stickler Syndrome and Homoeopathy – Kavitha K Homeo
Indian Pediatrics - Editorial
and Congenital Anomalies | Ento Key
Acquired Cutis Laxa Type II (Marshall Syndrome) in an 18‐Month‐Old Child: A Case Report - Haider - 2010 - Pediatric Dermatology - Wiley Online Library
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A rare case of stickler marshall syndrome
File:Marshall syndrome.jpg - Wikimedia Commons
PDF] Marshall's syndrome* | Semantic Scholar
Spontaneous Rupture of the Lens Capsule in a Case of Marshall Syndrome | Journal of Pediatric Ophthalmology & Strabismus
Marshall-Smith syndrome: case report of a newborn male and review of the literature. - Abstract - Europe PMC
Atlas Entry - Marshall Syndrome
PDF] Marshall-Smith Syndrome in a Chinese Boy | Semantic Scholar
Stickler Marshall Syndrome: Adelaide boy with rare genetic condition living mainstream life with specialist intervention | The Advertiser