An apparently new autosomal recessive syndrome with facial dysmorphism, macrocephaly, myopia and Dandy-Walker malformation-Reference-Cited by-同舟云学术

An apparently new autosomal recessive syndrome with facial dysmorphism, macrocephaly, myopia and Dandy-Walker malformation

Published:2008-06-28 Issue:6 Volume:36 Page:451-455
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Buttiens M.,Fryns J. P.,Berghe H. van den

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1989.tb03375.x/fullpdf

Reference6 articles.

1. Okulozerebra-le Dysplasie: Aplasia Nervi Optici sowie famili-arer Mikr- und Kryophthalmus;Behrens-Baumann;Klin. Mbl. Au-genheilk.,1981

2. Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis;Boltshauser;Neur-opaediatrie,1977

3. Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia;Fryns;J. Med. Genet.,1987

4. Syndrome characterized by lingual malformation, polydactyly, tachypnea, and psy-chomotor retardation (Mohr syndrome);Gustavson;Clin. Genet.,1971

5. The Coffin-Siris syndrome. A report of four cases and review of the literature;Lucaya;Pediatr. Radiol.,1981

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Oral findings and dental treatment in a patient with Dandy-Walker syndrome: a case report;Special Care in Dentistry;2013-07-16

2. Severe Myopia with Unusual Retinal Anomalies and Dandy-Walker Sequence in Two Sibs. A Distinct New Neuro-ocular Disorder;Ophthalmic Genetics;2013-01-30

3. D;Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007

4. Two brothers with macrocephaly, progressive cerebral atrophy and abnormal white matter, severe mental retardation, and Lennox-Gastaut spectrum type epilepsy: An inherited encephalopathy of childhood?;American Journal of Medical Genetics;2001

5. Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome?;Journal of Medical Genetics;1997-10-01