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Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3.与感音神经性耳聋、内耳和中耳畸形、牙发育不全、先天性垂直距骨以及7q21.1 - q21.3区域八个微卫星标记缺失相关的裂手/裂足畸形。
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Osteogenesis Imperfecta and Split Foot Malformation due to 7q21.2q21.3 Deletion Including COL1A2, DLX5/6 Genes: Review of the Literature.7q21.2q21.3 缺失导致的成骨不全和裂足畸形，包括COL1A2、DLX5/6基因：文献综述
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A genotype-phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus.1型手足裂畸形的基因型-表型相关性：7q21.3位点内表型亚区域的进一步细化。
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Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia.患有局灶性真皮发育不全的儿童和成人的皮肤、颅骨及骨骼缺陷
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The molecular genetics of human appendicular skeleton.人类附肢骨骼的分子遗传学。
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Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies?先天性巨细胞病毒感染患者的感音神经性听力损失：识别合并症是否有用？
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A novel description of a syndrome consisting of 7q21.3 deletion including DYNC1I1 with preserved DLX5/6 without ectrodactyly: a case report.一种由7q21.3缺失组成的综合征的新描述，包括动力蛋白胞质1中间链1（DYNC1I1），DLX5/6保留且无并指畸形：一例报告。
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Phenotypic subregions within the split-hand/foot malformation 1 locus.裂手/裂足畸形1基因座内的表型亚区域。
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Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3.

作者信息

Haberlandt E, Löffler J, Hirst-Stadlmann A, Stöckl B, Judmaier W, Fischer H, Heinz-Erian P, Müller T, Utermann G, Smith R J, Janecke A R

出版信息

J Med Genet. 2001 Jun;38(6):405-9. doi: 10.1136/jmg.38.6.405.

DOI:10.1136/jmg.38.6.405
PMID:11424924
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1734906/
Abstract
摘要