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Items: 5

1.

Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.

Pehlivan D, Karaca E, Aydin H, Beck CR, Gambin T, Muzny DM, Bilge Geckinli B, Karaman A, Jhangiani SN; Centers for Mendelian Genomics., Gibbs RA, Lupski JR.

Eur J Hum Genet. 2014 Sep;22(9):1145-8. doi: 10.1038/ejhg.2013.291.

2.

A new case of cerebro-facio-thoracic dysplasia in a 3-year-old girl with short stature and hypothyroidism.

Smigiel R, Barg E, Gabrysz M, Szpich E, Sasiadek M, Sasiadek M.

Clin Dysmorphol. 2012 Jul;21(3):167-9. doi: 10.1097/MCD.0b013e3283541e03. No abstract available.

PMID:
22555342
3.

Cerebro-facio-thoracic dysplasia: expanding the phenotype.

Cilliers D, Alanay Y, Boduroglu K, Utine E, Tunçbilek E, Clayton-Smith J.

Clin Dysmorphol. 2007 Apr;16(2):121-5.

PMID:
17351359
4.

Another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome).

Rufo-Campos M, Riveros-Huckstadt P, RodrIguez-Criado G, Hernández-Soto R.

Brain Dev. 2004 Apr;26(3):209-12.

PMID:
15030912
5.

Cerebro-facio-thoracic dysplasia: report of three cases.

Pascual-Castroviejo I, Santolaya JM, Martin VL, Rodriguez-Costa T, Tendero A, Mulas F.

Dev Med Child Neurol. 1975 Jun;17(3):343-51.

PMID:
1204988

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