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Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype. [JOURNAL ARTICLE]
Clin Dysmorphol 2012 May 10.
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Functional Analysis of Alleged NOGGIN Mutation G92E Disproves Its Pathogenic Relevance. [Journal Article]
PLoS One 2012; 7(4):e35062.
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Cell Biosci 2012 Apr 20; 2(1):14.
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Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation. [JOURNAL ARTICLE]
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Two teenage males with hypocalcemia and elevated parathyroid hormone levels. [Journal Article]
Pediatr Ann 2012 Apr 1; 41(4):e1-5.
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Am J Orthod Dentofacial Orthop 2012 Apr; 141(4 Suppl):S110-8.
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Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis. [Journal Article]
Am J Hum Genet 2012 Apr 6; 90(4):740-5.
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[Clinical features, mutation of the GNAS1 and pathogenesis of progressive osseous heteroplasia]. [English Abstract, Journal Article]
Zhonghua Er Ke Za Zhi 2012 Jan; 50(1):10-4.
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| Shalev SA, Spiegel R, Borochowitz ZU
A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families. [Journal Article]
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