Disease: Brachydactyly dwarfism mental retardation
- A case of interstitial 1q deletion [46,XY,del(q25q32.1)]
- A new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation in sibs
- A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4-p11.21
- Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
- Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome
- Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation
- Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1
- Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25
- Further delineation of the phenotype caused by loss of function mutations in PRMT7
- Kabuki make-up syndrome and report of a case with hydrocephalus
- Lenz-Majewski hyperostotic dwarfism: reexamination of the original patient
- Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?
- Lenz-Majewski syndrome in a patient from Egypt
- Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt
- Natural history of KBG syndrome in a large European cohort
- Partial monosomy of 7q32 in a case of de novo rcp(7;15)(q32;q15)
- Pseudohypoparathyroidism Type 1A-Subclinical Hypothyroidism and Rapid Weight Gain as Early Clinical Signs: A Clinical Review of 10 Cases
- RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly
- Short stature in PRMT7 Mutations: first evidence of response to growth hormone treatment
- The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2
- The phenotype of the trisomy of the short arm of chromosome no. 4. (a new case with t (4p; 11q) (author's transl)
- The third patient with Tsukahara-Azuno-Kaiji syndrome with type A1 brachydactyly, dwarfism, microcephaly, scoliosis, intellectual disability, ptosis, and hearing loss
- Type A1 brachydactyly, dwarfism, ptosis, mixed partial hearing loss, microcephaly, and mental retardation
- Type C hereditary brachydactyly. Clinical and genetic study of 3 families
- X-linked Aarskog syndrome: report on a novel FGD1 gene mutation. Executive dysfunction as part of the behavioural phenotype