Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

Autor: Twigg, SR, Babbs, C, van den Elzen, ME, Goriely, A, Taylor, S, McGowan, SJ, Giannoulatou, E, Lonie, L, Ragoussis, J, Sadighi Akha, E, Knight, SJ, Zechi-Ceide, RM, Hoogeboom, JA, Pober, BR, Toriello, HV, Wall, SA, Rita Passos-Bueno, M, Brunner, HG, Mathijssen, IM, Wilkie, AO

Publikováno v: Human Molecular Genetics
Human Molecular Genetics, 22, 1654-62
Human Molecular Genetics, 22, 8, pp. 1654-62
Human Molecular Genetics, 22(8), 1654-1662. Oxford University Press

Contains fulltext : 118112.pdf (Publisher’s version ) (Open Access) Craniofrontonasal syndrome (CFNS), an X-linked disorder caused by loss-of-function mutations of EFNB1, exhibits a paradoxical sex reversal in phenotypic severity: females character

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::6454c4691ce436a971e3508f0b88a145
http://europepmc.org/articles/PMC3605834

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Mandibulo-acral dysplasia

Autor: Toriello Hv

Publikováno v: Clinical Dysmorphology. 4:12

Several patients with mandibulo-acral dysplasia have been described, although it is becoming clear that the phenotype is quite variable, both with regards to clinical findings and age of onset. This is a review of the literature on mandibulo-acral dy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::83bd6e113c84ba04216e9ccf71844d1e
https://doi.org/10.1097/00019605-199501000-00002

Oral-facial-digital syndromes, 1992

Autor: Toriello Hv

Publikováno v: Clinical Dysmorphology. 2:95

In 1988, there were seven conditions which could be considered distinct oral-facial-digital syndromes (OFDS). Currently there are at least nine, as well as different classification systems in use. This paper provides an update on recently described O

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e73a1a98246e7c54e41934f847eeb507
https://doi.org/10.1097/00019605-199304000-00001

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