Chondrodysplasie ponctuée de type Conradi-Hünermann et alcoolisme fœtal = Conradi Hünermann type chondrodysplasia punctata and fetal alcoholismSARDA, P; GUILLAUMONT, S; JALAGUIER, J et al.Journal de génétique humaine. 1989, Vol 37, Num 4-5, pp 395-399, issn 0021-7743, 5 p.Article

Rhizomelic chondrodysplasia punctata: clinical, pathologic, and biochemical findings in two patientsPOULOS, A; SHEFFIELD, L; SHARP, P et al.The Journal of pediatrics. 1988, Vol 113, Num 4, pp 685-690, issn 0022-3476Article

Pyle disease (metaphyseal dysplasia)BEIGHTON, P.Journal of medical genetics. 1987, Vol 24, Num 6, pp 321-324, issn 0022-2593Article

Chondrodysplasia punctata. Report of two casesANDERSEN, R. E. JR; JUTESEN, P.Skeletal radiology. 1987, Vol 16, Num 3, pp 223-226, issn 0364-2348Article

Chrondrodysplasia punctata (conradi disease)O'BRIEN, J. T.International journal of dermatology. 1990, Vol 29, Num 7, pp 472-476, issn 0011-9059, 5 p.Article

Brief clinical report: Sedaghatian congenital lethal metaphyseal chondrodysplasia ― observations in a second Iranian family and histopathological studiesOPITZ, J. M; SPRANGER, J. W; STOSS, H. R et al.American journal of medical genetics. 1987, Vol 26, Num 3, pp 583-590, issn 0148-7299Article

Metaphyseal dyschondroplasia with cone-shaped epiphysesHOEFFEL, J. C; DIDIER, F; CHANTEREAU, D et al.British journal of radiology. 1987, Vol 60, Num 715, pp 707-710, issn 0007-1285Article

La maladie des épiphyses ponctuées (à propos de 2 cas personnels) = The punctuate epiphysis disease (two cases)GARCIA, P; PALIX, C; COIGNET, J et al.Le Pédiatre. 1985, Vol 21, Num 93, pp 287-295, issn 0397-9180Article

Chondrodysplasia punctata in an adult recognized as vitamin K antagonist embryopathyHOSENFELD, D; WIEDEMANN, H.-R.Clinical genetics. 1989, Vol 35, Num 5, pp 376-381, issn 0009-9163, 6 p.Article

Murk Jansen's metaphyseal chondrodysplasia with long-term followupSILVERTHORN, K. G; HOUSTON, C. S; DUNCAN, B. P et al.Pediatric radiology. 1987, Vol 17, Num 2, pp 119-123, issn 0301-0449Article

Visualization of cartilage formation : Insight into cellular properties of skeletal progenitors and chondrodysplasia syndromesBARNA, Maria; NISWANDER, Lee.Developmental cell. 2007, Vol 12, Num 6, pp 931-941, issn 1534-5807, 11 p.Article

Peroxisomal abnormalities in rhizomelic chondrodysplasia punctataHEYMANS, H. S. A; OORTHUYS, J. W. E; NELCK, G et al.Journal of inherited metabolic disease. 1986, Vol 9, pp 329-331, issn 0141-8955, suppl. 2Conference Paper

Rhizomelic chondrodysplasia punctata : deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzymeHEIKOOP, J. C; VAN ROERMUND, C. W. T; JUST, W. W et al.The Journal of clinical investigation. 1990, Vol 86, Num 1, pp 126-130, issn 0021-9738Article

A new case of fibrochondrogenesis from SpainMARTINEZ-FRIAS, M. L; GARCIA, A; CUEVAS, J et al.Journal of medical genetics. 1996, Vol 33, Num 5, pp 429-431, issn 0022-2593Article

La dysplasie pseudo-diastrophique = Pseudo-diastrophic dysplasiaBERTRAND, J. G; TYAZI, A; ZAOUI, C et al.Annales de pédiatrie (Paris). 1991, Vol 38, Num 1, pp 19-22, issn 0066-2097Article

Metaphyseal chondrodysplasia, Schmid type clinical and radiographic deliniation with a review of the literatureLACHMAN, R. S; RIMOIN, D. L; SPRANGER, J et al.Pediatric radiology. 1988, Vol 18, Num 2, pp 93-102, issn 0301-0449Article

A Secreted Variant of Cartilage Oligomeric Matrix Protein Carrying a Chondrodysplasia-Causing Mutation (p.H587R) Disrupts Collagen FibrillogenesisHANSEN, Uwe; PLATZ, Nicole; BECKER, Alexander et al.Arthritis and rheumatism. 2011, Vol 63, Num 1, pp 159-167, issn 0004-3591, 9 p.Article

Problems and paradigms in joint pathology : Biology of jointsGARDNER, D. L.Journal of anatomy (Print). 1994, Vol 184, pp 465-476, issn 0021-8782, 3Article

Onycho-ostéo-dysplasie = Nail patella syndromeALBECQ, J. F; LEONARD, J. C; MORIN, C et al.Le Pédiatre. 1989, Vol 25, Num 118, pp 279-285, issn 0397-9180, 5 p.Article

Acro-spondylar variant of punctate epiphyseal dysplasia: report of two casesKOZLOWSKI, K; MAJEWSKI, F.RöFo. Fortschritte auf dem Gebiete der Röntgenstrahlen und der Nuklearmedizin. 1990, Vol 152, Num 1, pp 115-117, issn 0340-1618, 3 p.Article

Recessive lethal chondrodysplasia, round femoral inferior epiphysis typeMAROTEAUX, P; STANESCU, V; COUSIN, J et al.European journal of pediatrics. 1988, Vol 147, Num 4, pp 408-411, issn 0340-6199Article

Condrodisplasia punctata tipo Conradi-Hünerman. Presentación de un caso = Conradi Hünerman chondrodysplasia. Report of one caseHERRERA-NAVARRO, M.Dermatología. 1990, Vol 34, Num 4, pp 291-293, issn 0185-4038, 3 p.Article

Genu valgum associated with short statureJOHNSTON, C. E. II.Orthopedics (Thorofare). 1987, Vol 10, Num 2, pp 370-376, issn 0147-7447Article

GenochondromatosisLE MERRER, M; FRESSINGER, P; MAROTEAUX, P et al.Journal of medical genetics. 1991, Vol 28, Num 7, pp 485-489, issn 0022-2593Article

Distinctive metaphyseal chondrodysplasia simulating cartilage hair hypoplasiaCASTRIOTA-SCANDERBEG, A; DALLAPICCOLA, B; MINGARELLI, R et al.American journal of medical genetics. 2001, Vol 99, Num 4, pp 289-293, issn 0148-7299Article