Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study

Oral–facial–digital syndrome type 1 (OFD1) is characterised by an X linked dominant mode of inheritance with lethality in males. Clinical features include facial dysmorphism with oral, tooth, and distal abnormalities, polycystic kidney disease, and central nervous system malformations. Large interfa...

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Hlavní autoři: Thauvin‐Robinet, C, Cossée, M, Cormier‐Daire, V, Van Maldergem, L, Toutain, A, Alembik, Y, Bieth, E, Layet, V, Parent, P, David, A, Goldenberg, A, Mortier, G, Héron, D, Sagot, P, Bouvier, A M, Huet, F, Cusin, V, Donzel, A, Devys, D, Teyssier, J R
Médium: Článek
Jazyk:English
Vydáno: BMJ Group 2006
Témata:
Letter to JMG
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2564504/
https://ncbi.nlm.nih.gov/pubmed/16397067
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.027672
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https://ncbi.nlm.nih.gov/pmc/articles/PMC2564504/
https://ncbi.nlm.nih.gov/pubmed/16397067
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.027672

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