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Results: 9

1.

Fetal alcohol syndrome: a phenocopy of spondylocarpotarsal synostosis syndrome?

Vassel J, Rupps R, Krakow D, Puvanachandra N, Gardiner JA, Lazeo SR, Boerkoel CF.

Clin Dysmorphol. 2010 Oct;19(4):175-80. doi: 10.1097/MCD.0b013e3283398730. No abstract available.

PMID:
20717009
[PubMed - indexed for MEDLINE]
2.

Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)--a distinct syndrome?

Sousa SB, Baujat G, Abadie V, Bonnet D, Sidi D, Munnich A, Krakow D, Cormier-Daire V.

Am J Med Genet A. 2010 Mar;152A(3):539-46. doi: 10.1002/ajmg.a.33277.

PMID:
20186786
[PubMed - indexed for MEDLINE]
3.

Disease-associated substitutions in the filamin B actin binding domain confer enhanced actin binding affinity in the absence of major structural disturbance: Insights from the crystal structures of filamin B actin binding domains.

Sawyer GM, Clark AR, Robertson SP, Sutherland-Smith AJ.

J Mol Biol. 2009 Jul 31;390(5):1030-47. doi: 10.1016/j.jmb.2009.06.009. Epub 2009 Jun 6.

PMID:
19505475
[PubMed - indexed for MEDLINE]
4.

Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity.

Isidor B, Cormier-Daire V, Le Merrer M, Lefrancois T, Hamel A, Le Caignec C, David A, Jacquemont S.

Am J Med Genet A. 2008 Jun 15;146A(12):1593-7. doi: 10.1002/ajmg.a.32217.

PMID:
18470895
[PubMed - indexed for MEDLINE]
5.

Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father.

Mitter D, Krakow D, Farrington-Rock C, Meinecke P.

Am J Med Genet A. 2008 Mar 15;146A(6):779-83. doi: 10.1002/ajmg.a.32230.

PMID:
18257094
[PubMed - indexed for MEDLINE]
6.

Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome.

Farrington-Rock C, Kirilova V, Dillard-Telm L, Borowsky AD, Chalk S, Rock MJ, Cohn DH, Krakow D.

Hum Mol Genet. 2008 Mar 1;17(5):631-41. Epub 2007 Jul 17.

PMID:
17635842
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Unusual facies, thumb hypoplasia, distinctive spinal fusions and extraspinal mobility limitation, in a pair of monozygotic twins.

Al Kaissi A, Klaushofer K, Krebs A, Grill F.

Clin Dysmorphol. 2007 Jul;16(3):151-5.

PMID:
17551327
[PubMed - indexed for MEDLINE]
8.

Spondylocarpotarsal synostosis syndrome: MRI evaluation of vertebral and disk malformation.

Breitling M, Lemire EG, Rabin M.

Pediatr Radiol. 2006 Aug;36(8):866-9. Epub 2006 Jun 8.

PMID:
16761119
[PubMed - indexed for MEDLINE]
9.

Spondylocarpotarsal synostosis syndrome (with a posterior midline unsegmented bar).

Al Kaissi A, Ghachem MB, Nassib N, Ben Chehida F, Kozlowski K.

Skeletal Radiol. 2005 Jun;34(6):364-6. Epub 2004 Nov 16.

PMID:
15891931
[PubMed - indexed for MEDLINE]

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