Literature DB >> 6432966

Craniofacial and CNS anomalies with body asymmetry, severe retardation, and other malformations.

B A Fine, M Lubinsky.   

Abstract

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Mesh：

Year:  1983        PMID： 6432966

Source DB:  PubMed          Journal:  J Clin Dysmorphol        ISSN： 0736-4407


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  3 in total

1.  Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion.

Authors:  Simeon A Boyadjiev; S-D Kim; A Hata; C Haldeman-Englert; E H Zackai; C Naydenov; S Hamamoto; R W Schekman; Jinoh Kim
Journal:  Clin Genet       Date:  2010-10-12       Impact factor: 4.438

2.  Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.

Authors:  Marcello Niceta; Emilia Stellacci; Karen W Gripp; Giuseppe Zampino; Maria Kousi; Massimiliano Anselmi; Alice Traversa; Andrea Ciolfi; Deborah Stabley; Alessandro Bruselles; Viviana Caputo; Serena Cecchetti; Sabrina Prudente; Maria T Fiorenza; Carla Boitani; Nicole Philip; Dmitriy Niyazov; Chiara Leoni; Takaya Nakane; Kim Keppler-Noreuil; Stephen R Braddock; Gabriele Gillessen-Kaesbach; Antonio Palleschi; Philippe M Campeau; Brendan H L Lee; Celio Pouponnot; Lorenzo Stella; Gianfranco Bocchinfuso; Nicholas Katsanis; Katia Sol-Church; Marco Tartaglia
Journal:  Am J Hum Genet       Date:  2015-04-09       Impact factor: 11.025

3.  Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).

Authors:  Shari Javadiyan; Jamie E Craig; Shiwani Sharma; Karen M Lower; Theresa Casey; Eric Haan; Emmanuelle Souzeau; Kathryn P Burdon
Journal:  BMC Med Genet       Date:  2017-05-08       Impact factor: 2.103
  3 in total

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