Add to ORKGA condition is described which is characterized by chorio-retinal dysplasia , microcephaly and mental retardation, transmitted in an autosomal dominant fashion with variable expressivity. It is suggested that this condition is a distinct autosomal dominant syndrome
Cockayne's syndrome is a rare recessive autosomal disorder. Its frequency at birth is very low. In t...
Microcephaly is defined as a head circumference more than two standard deviations below the mean for...
We present the clinical and radiographic findings in a patient with the autosomal recessive form of ...
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...
Haslam in his reply to a letter presenting a new family with autosomal dominant microcephaly, affir...
A condition is described which is characterized by microphthalmia and congenital anterior polar cata...
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) i...
CONTEXT: The autosomal recessive form of microcephaly-chorioretinopathy syndrome is a rare genetic c...
Anterior cervical hypertrichosis (ACH) is a rare form of localized hypertrichosis with 15 previously...
Purpose: We studied an Italian family affected by the autosomal dominant form of microcephaly and ch...
Introduction. Objective. To introduce a rare condition called Microcephaly-Lymphedema- Chorioretinal...
We describe a large family with 14 persons presenting macrosomia with or without mental retardation ...
A 3-year-old girl, her mother, and maternal uncle had microcephaly and mental retardation. Their fac...
Cockayne's syndrome is a rare recessive autosomal disorder. Its frequency at birth is very low. In t...
Microcephaly is defined as a head circumference more than two standard deviations below the mean for...
We present the clinical and radiographic findings in a patient with the autosomal recessive form of ...
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...
Haslam in his reply to a letter presenting a new family with autosomal dominant microcephaly, affir...
A condition is described which is characterized by microphthalmia and congenital anterior polar cata...
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) i...
CONTEXT: The autosomal recessive form of microcephaly-chorioretinopathy syndrome is a rare genetic c...
Anterior cervical hypertrichosis (ACH) is a rare form of localized hypertrichosis with 15 previously...
Purpose: We studied an Italian family affected by the autosomal dominant form of microcephaly and ch...
Introduction. Objective. To introduce a rare condition called Microcephaly-Lymphedema- Chorioretinal...
We describe a large family with 14 persons presenting macrosomia with or without mental retardation ...
A 3-year-old girl, her mother, and maternal uncle had microcephaly and mental retardation. Their fac...
Cockayne's syndrome is a rare recessive autosomal disorder. Its frequency at birth is very low. In t...
Microcephaly is defined as a head circumference more than two standard deviations below the mean for...
We present the clinical and radiographic findings in a patient with the autosomal recessive form of ...