Disease: Mental retardation- macrocephaly- short stature and craniofacial dysmorphism
- Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation
- Further delineation of Malan syndrome
- Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver-Russell syndrome
- Mental retardation, macrocephaly, short stature and craniofacial dysmorphism in three sisters. A new entity among the mental retardation-macrocephaly syndromes?
- Mutations in SETD2 cause a novel overgrowth condition
- Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome
- Novel EED mutation in patient with Weaver syndrome
- Patient with dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature
- Polyhydramnios, fetal overgrowth, and macrocephaly: prenatal ultrasound findings of Costello syndrome
- Variants in nuclear factor I genes influence growth and development
- Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro