Arthrogryposis, perthes disease, and upward gaze palsy: A novel autosomal recessive syndromic form of arthrogryposis
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33794/fullpdf
Reference16 articles.
1. Arthrogryposis multiplex congenita, craniofacial, and ophthalmological abnormalities and normal intelligence: A new syndrome?;al-Ghamdi;Am J Med Genet,1997
2. Arthrogryposis: A review and update;Bamshad;J Bone Joint Surg Am,2009
3. Unilateral left paramedian infarction of thalamus and midbrain: A clinico-pathological study;Bogousslavsky;J Neurol Neurosurg Psychiatry,1986
4. Vertical glaze paralysis and the rostral interstitial nucleus of the medial longitudinal fasciculus;Buttner-Ennever;Brain,1982
5. Martsolf syndrome in Japanese siblings;Ehara;Am J Med Genet Part A,2007
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