Latest papers

[Tapetoretinal dystrophy and unusual facial features in an 8-year-old boy].

[Tapetoretinal dystrophy and unusual facial features in an 8-year-old boy].

[Tapetoretinal dystrophy and unusual facial features in an 8-year-old boy].

[Tapetoretinal dystrophy and unusual facial features in an 8-year-old boy].

[Tapetoretinal dystrophy and unusual facial features in an 8-year-old boy].

[Tapetoretinal dystrophy and unusual facial features in an 8-year-old boy].

[Tapetoretinal dystrophy and unusual facial features in an 8-year-old boy].

[Tapetoretinal dystrophy and unusual facial features in an 8-year-old boy].

[Tapetoretinal dystrophy and unusual facial features in an 8-year-old boy].

[Tapetoretinal dystrophy and unusual facial features in an 8-year-old boy].

[Tapetoretinal dystrophy and unusual facial features in an 8-year-old boy].

[Tapetoretinal dystrophy and unusual facial features in an 8-year-old boy].

Genome-wide SNP array analysis in patients with features of sotos syndrome.

Morphometric analysis and classification of the facial phenotype associated with fetal alcohol syndrome in 5- and 12-year-old children.

Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia.

Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.

Hyperphosphatasia with mental retardation, brachytelephalangy, and a distinct facial gestalt: Delineation of a recognizable syndrome.

A patient with leonine facies and occult lung disease.

A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32.

Dental manifestations associated with Seckel syndrome type II: a case report.