Two sibs who are double heterozygotes for achondroplasia and pseudoachondroplastic dysplasia.

Author:

Woods C G,Rogers J G,Mayne V

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference7 articles.

1. Standard growth curves for achondroplasia;Horton, W.A.,1978

2. Confidence bands for the growth of head circumference in achondroplastic children during the first year of life;Dawson, D.V.;Am 7 Med Genet,1980

3. Bone dysplasias: an atlas of constitutional disorders of skeletal development;Spranger, J.W.; Langer, L.O.; Wiedemann, H.R.,1974

4. Hall JG. Pseudoachondroplasia. Birth Defects 1975;11(6): 187-202.

5. Long term neurological sequelae in achondroplasia;Hecht, J.T.;Eur J Pediatr,1984

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1. Skeletal Dysplasias;Clinics in Perinatology;2015-06

2. Lung hypoplasia and severe pulmonary hypertension in an infant with double heterozygosity for spondyloepiphyseal dysplasia congenita and achondroplasia;Clinical Genetics;2008-06-28

3. A;Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007

4. Double heterozygosity in bone growth disorders: Four new observations and review;American Journal of Medical Genetics;2003-08-12

5. Molecular diagnosis in a pregnancy at risk for both spondyloepiphyseal dysplasia congenita and achondroplasia;Prenatal Diagnosis;2003

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