Haslam in his reply to a letter presenting a new family with autosomal dominant microcephaly, affirms that the number of patients with this anomaly is increasing and suggests caution in making the diagnosis. The autosomal dominant chorioretinal dysplasia - microcephaly-mental retardation syndrome, which has variability of expression, must also be considered in the differential diagnosis
A 3-year-old girl, her mother, and maternal uncle had microcephaly and mental retardation. Their fac...
A condition is described which is characterized by microphthalmia and congenital anterior polar cata...
Autosomal recessive microcephaly or MicroCephaly Primary Hereditary (MCPH) is a genetically heteroge...
A condition is described which is characterized by chorio-retinal dysplasia , microcephaly and menta...
We describe a boy and his father with the chorioretinal dysplasia-microcephaly-mental retardation sy...
We describe a boy and his father with the chorioretinal dysplasia-microcephaly-mental retardation sy...
CONTEXT: The autosomal recessive form of microcephaly-chorioretinopathy syndrome is a rare genetic c...
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) i...
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) i...
Purpose: We studied an Italian family affected by the autosomal dominant form of microcephaly and ch...
Introduction: Autosomal recessive primary microcephaly (MCPH) is a disorder characterized by congeni...
Microcephaly is defined as a head circumference more than two standard deviations below the mean for...
Microcephaly is the clinical finding of a head circumfer-ence measurement greater than three standar...
Introduction. Objective. To introduce a rare condition called Microcephaly-Lymphedema- Chorioretinal...
Autosomal recessive microcephaly or microcephaly primary hereditary (MCPH) is a genetically heteroge...
A 3-year-old girl, her mother, and maternal uncle had microcephaly and mental retardation. Their fac...
A condition is described which is characterized by microphthalmia and congenital anterior polar cata...
Autosomal recessive microcephaly or MicroCephaly Primary Hereditary (MCPH) is a genetically heteroge...
A condition is described which is characterized by chorio-retinal dysplasia , microcephaly and menta...
We describe a boy and his father with the chorioretinal dysplasia-microcephaly-mental retardation sy...
We describe a boy and his father with the chorioretinal dysplasia-microcephaly-mental retardation sy...
CONTEXT: The autosomal recessive form of microcephaly-chorioretinopathy syndrome is a rare genetic c...
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) i...
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) i...
Purpose: We studied an Italian family affected by the autosomal dominant form of microcephaly and ch...
Introduction: Autosomal recessive primary microcephaly (MCPH) is a disorder characterized by congeni...
Microcephaly is defined as a head circumference more than two standard deviations below the mean for...
Microcephaly is the clinical finding of a head circumfer-ence measurement greater than three standar...
Introduction. Objective. To introduce a rare condition called Microcephaly-Lymphedema- Chorioretinal...
Autosomal recessive microcephaly or microcephaly primary hereditary (MCPH) is a genetically heteroge...
A 3-year-old girl, her mother, and maternal uncle had microcephaly and mental retardation. Their fac...
A condition is described which is characterized by microphthalmia and congenital anterior polar cata...
Autosomal recessive microcephaly or MicroCephaly Primary Hereditary (MCPH) is a genetically heteroge...
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