Acrocephalopolydactylous Dysplasia

Griscelli syndrome (GS) is a rare autosomal recessive disorder characterized by partial albinism. Three different types are… (More)

Acrocephalopolydactylous dysplasia, (Elejalde syndrome) is a rare condition; only six cases have been reported to date. We… (More)

Perspectives on craniosynostosis are discussed under the following headings: sutural biology (anatomic and genetic categories of… (More)

Dr. Paulo B.N. Liberalesso – Rua Benjamin Constant 90 / 73 80060-050 Curitiba PR Brasil. E-mail: paulo.neuroped@uol.com.br In… (More)

Elejalde syndrome is a rare disorder. An Egyptian male patient with Elejalde syndrome is presented. He had silvery hair since… (More)

Myosin Va is an actin-based motor molecule, one of a large family of unconventional myosins. In humans, mutations in MYO5A cause… (More)

Griscelli syndrome (GS), a rare autosomal recessive disorder, is characterized by partial albinism, along with immunologic… (More)

Neuroectodermal melanolysosomal disease, also known as Elejalde syndrome, is a rare syndrome characterized by silvery hair… (More)

 

BACKGROUND Silvery hair and severe dysfunction of the central nervous system (neuroectodermal melanolysosomal disease or Elejalde… (More)