Robin M. Winter
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View article: Mutational Analysis in X-Linked Spondyloepiphyseal Dysplasia Tarda1
Mutational Analysis in X-Linked Spondyloepiphyseal Dysplasia Tarda1 Open
Spondyloepiphyseal dysplasia tarda (SEDT) is an X-linked recessive disorder characterized by short stature due to defective growth of the vertebral bodies. In addition, deformities of the femoral heads result in early onset secondary osteo…
View article: Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32
Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32 Open
Popliteal pterygium syndrome (PPS) is a rare autosomal dominant disorder, thought to occur with an incidence of approximately 1 in 300 000 live births. The main clinical manifestations are popliteal webbing, cleft lip, cleft palate, lower …
View article: Dominantly Inherited Amyotrophic Lateral Sclerosis (Motor Neuron Disease)
Dominantly Inherited Amyotrophic Lateral Sclerosis (Motor Neuron Disease) Open
The term amyotrophic lateral sclerosis was first introduced by Charcot to describe cases with mixed upper and lower motor neuron signs without sensory impairment. Later the syndromes of progressive bulbar palsy (PBP) and progressive muscul…