Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) is a rare autosomal dominant disorder with variable expressivity. It is characterized by mild-to-severe microcephaly, often associated with intellectual disability, ocular defects and lymphedema. It can be sporadic or inherited. Eighty-seven patients have been described to carry a mutation in KIF11, which encodes a homotetrameric motor kinesin, EG5
The autosomal recessive form of primary microcephaly (MCPH) is a rare disorder characterized by head...
We describe a boy and his father with the chorioretinal dysplasia-microcephaly-mental retardation sy...
Microcephaly primary hereditary (MCPH) is a congenital disease characterized by nonsyndromic reducti...
BACKGROUND: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndro...
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) i...
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR) (MIM No.1...
Item does not contain fulltextWe have identified KIF11 mutations in individuals with syndromic autos...
We have identified KIF11 mutations in individuals with syndromic autosomal-dominant microcephaly ass...
We have identified KIF11 mutations in individuals with syndromic autosomal-dominant microcephaly ass...
Introduction: Autosomal recessive primary microcephaly (MCPH) is a disorder characterized by congeni...
Microcephaly is the clinical finding of a head circumfer-ence measurement greater than three standar...
Microcephalylymphedemachorioretinal dysplasia (MLCRD) syndrome is a rare syndrome that was first des...
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR; OMIM 15295...
Abstract Background Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogene...
We describe a boy and his father with the chorioretinal dysplasia-microcephaly-mental retardation sy...
The autosomal recessive form of primary microcephaly (MCPH) is a rare disorder characterized by head...
We describe a boy and his father with the chorioretinal dysplasia-microcephaly-mental retardation sy...
Microcephaly primary hereditary (MCPH) is a congenital disease characterized by nonsyndromic reducti...
BACKGROUND: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndro...
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) i...
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR) (MIM No.1...
Item does not contain fulltextWe have identified KIF11 mutations in individuals with syndromic autos...
We have identified KIF11 mutations in individuals with syndromic autosomal-dominant microcephaly ass...
We have identified KIF11 mutations in individuals with syndromic autosomal-dominant microcephaly ass...
Introduction: Autosomal recessive primary microcephaly (MCPH) is a disorder characterized by congeni...
Microcephaly is the clinical finding of a head circumfer-ence measurement greater than three standar...
Microcephalylymphedemachorioretinal dysplasia (MLCRD) syndrome is a rare syndrome that was first des...
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR; OMIM 15295...
Abstract Background Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogene...
We describe a boy and his father with the chorioretinal dysplasia-microcephaly-mental retardation sy...
The autosomal recessive form of primary microcephaly (MCPH) is a rare disorder characterized by head...
We describe a boy and his father with the chorioretinal dysplasia-microcephaly-mental retardation sy...
Microcephaly primary hereditary (MCPH) is a congenital disease characterized by nonsyndromic reducti...