Bardet–Biedl syndrome is an autosomal recessive disorder characterized by rod-cone
dystrophy, postaxial polydactyly, obesity, hypogenitalism, mental retardation, and renal …

AMPA-type glutamate receptors (AMPARs), key elements in excitatory neurotransmission in
the brain, are macromolecular complexes whose properties and cellular functions are …

Adams–Oliver syndrome (AOS) consists of congenital scalp defects with variable limb defects
of unknown pathogenesis. We report on two children with AOS plus additional features …

Large brain size is one of the defining characteristics of modern humans. Seckel syndrome (MIM
210600), a disorder of markedly reduced brain and body size 1 , 2 , is associated with …

Background Pompe disease is a rare autosomal recessive disorder caused by a deficiency
of the lysosomal enzyme alpha-glucosidase responsible for degrading glycogen. Late-onset …

The presence of hydrometrocolpos and postaxial polydactyly in a neonate can be caused by
two genetic conditions; namely, McKusick–Kaufman syndrome and Bardet–Biedl syndrome…

Studies into disorders of extreme growth failure (for example, Seckel syndrome and
Majewski osteodysplastic primordial dwarfism type II) have implicated fundamental cellular …

Hirschsprung's disease (HSCR) is a developmental disorder characterized by the absence
of enteric neurons in distal segments of the gut. Though HSCR is isolated (nonsyndromic) in …

We report a patient with terminal transverse limb defects associated with persistent primitive
aorto‐pulmonary vascular connections leading to supra‐systemic pulmonary artery pressure…

Holoprosencephaly (HPE) is a defect of embryonic forebrain resulting from failure of growth
and segmentation of the anterior end of the neural tube. It has been classified into 4 types …