recessive inheritance
National Institutes of Health
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AbstractCongenital nystagmus is characterized by involuntary, rhythmical, repeated oscillations of one or both eyes. We studied a…
Resistance to thyroid hormone (RTH) is a syndrome of variable tissue hyposensitivity to TH. In 191 families, the RTH phenotype…
We report on a mother and daughter with the Brachmann-de Lange syndrome which supports the view that in some families this…
We describe a family with clinical features of orofaciodigital (OFD) syndrome type 2 or Mohr syndrome, X‐linked recessive…
The present report summarizes the experience on the mar(X) syndrome in a total of 157 male patients (44 prepubertal and 113…
The infantile form of Blount disease is common in the African Negro population of South Africa, although it is very rare in other…
Summary Two series of patients with epilepsy and with febrile convulsions were analysed on Slater's computational model for…
HE frequency of occurrence of spontaneous mutations has been under investigation in the extensive mouse breeding colonies of the…