LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development
Revised diagnostic criteria for the Marfan syndrome.
- A. De Paepe, R. Devereux, H. Dietz, R. Hennekam, R. Pyeritz
- MedicineAmerican journal of medical genetics
- 24 April 1996
More stringent requirements for diagnosis of the Marfan syndrome in relatives of an unequivocally affected individual; skeletal involvement as a major criterion if at least 4 of 8 typical skeletal manifestations are present; and potential contribution of molecular analysis to the diagnosis of Marfan Syndrome are proposed.
Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
Dysregulation of the RAS-RAF-ERK pathway is a common molecular basis for the three related disorders of Cardio-facio-cutaneous syndrome, which phenotypically overlaps with Noonan and Costello syndrome.
The Smith-Lemli-Opitz syndrome
The recent recognition of the important role of cholesterol in vertebrate embryogenesis, especially with regard to the hedgehog embryonic signalling pathway and its effects on the expression of homeobox genes, has provided an explanation for the abnormal morphogenesis in the syndrome.
Hutchinson–Gilford progeria syndrome: Review of the phenotype
- R. Hennekam
- MedicineAmerican Journal of Medical Genetics. Part A
- 1 December 2006
Patients can be subdivided in patients with classical HGPS, which follows an autosomal dominant pattern of inheritance, all cases representing spontaneous mutations, and in non‐classical progeria, in whom growth can be less retarded, scalp hair remains present for a longer time, lipodystrophy is more slowly progressive, osteolysis is more expressed except in the face, and survival well into adulthood.
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
The analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder, and indicates that at least one further AGS-causing gene remains to be identified.
Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism
Using genetic linkage analysis, it is found that biallelic loss-of-function mutations in the centrosomal pericentrin (PCNT) gene on chromosome 21q22.3 cause microcephalic osteodysplastic primordial dwarfism type II (MOPD II) in 25 patients.
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP
It is proposed that the loss of one functional copy of the CBP gene underlies the developmental abnormalities in RTS and possibly the propensity for malignancy.
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
Recurrent molecular lesions that elude syndromic classification and whose disease manifestations must be considered in a broader context of development as opposed to being assigned to a specific disease are identified.