The tale of a nail sign in chromosome 4q34 deletion syndrome
A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation
Interstitial deletion of 13q22→q31: case report and review of the literature
A case of 3q29 microdeletion with novel features and a review of cytogenetically visible terminal 3q deletions
Agenesis of the corpus callosum with interhemispheric cyst, hepatic haemangioma and trisomy 21
Oculoauriculovertebral spectrum with 5p15.33-pter deletion
Midline cleft lip and nasal dermoids over five generations: a distinct entity or autosomal dominant Pai syndrome?
Multiple periorbital dermoid cysts, clefting and mental retardation: a new malformation syndrome?
Two brothers with Goldberg–Shprintzen syndrome
A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
Mietens–Weber syndrome: two new patients and a review
Cutis aplasia as a feature of Kabuki syndrome
Eating disorder in a patient with phenotypical features of Lujan–Fryns syndrome
Neonatal teeth in X-linked Opitz (G/BBB) syndrome
Ser351Cys mutation in the fibroblast growth factor receptor 2 gene results in severe Pfeiffer syndrome
Anterior cervical hypertrichosis and mental retardation