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Level of the conus in pediatric patients with skeletal dysplasiaSASAKI-ADAMS, Deanna M; CAMPBELL, Jeffrey W; BAJELIDZE, Gela et al.Journal of neurosurgery. Pediatrics. 2010, Vol 5, Num 5, pp 455-459, issn 1933-0707, 5 p.Article

Platyspondylic Lethal Dysplasia Torrance Type With a Heterozygous Mutation in the Triple Helical Domain of COL2A1 in Two Sibs From Phenotypically Normal ParentsOKAMOTO, Toshio; NAGAYA, Ken; ASAI, Hiroko et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 8, pp 1953-1956, issn 1552-4825, 4 p.Article

Angulated femurs and the Skeletal dysplasias: Experience of the international Skeletal Dysplasia Registry (1988-2006)ALANAY, Yasemin; KRAKOW, Deborah; RIMOIN, David L et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 11, pp 1159-1168, issn 1552-4825, 10 p.Article

Patterson-Lowry rhizomelic dysplasia: Report of two new patientsFRANCESCHINI, Piergiorgio; LICATA, D; GUALA, A et al.American journal of medical genetics. 2004, Vol 127A, Num 1, pp 86-92, issn 0148-7299, 7 p.Article

Skeletal dysplasias and the growth plateALMAN, B. A.Clinical genetics. 2008, Vol 73, Num 1, pp 24-30, issn 0009-9163, 7 p.Article

Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 geneLACCONE, Franco; SCHONER, Katharina; KRABICHLER, Birgit et al.European journal of human genetics. 2011, Vol 19, Num 11, pp 1133-1137, issn 1018-4813, 5 p.Article

A Recurrence of a Hydrop Lethal Skeletal Dysplasia Showing Similarity to Desbuquois Dysplasia and a Proposed New Sign: The Upsilon SignBAYNAM, Gareth; KIRALY-BORRI, Cathy; GOLDBLATT, Jack et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 4, pp 966-969, issn 1552-4825, 4 p.Article

Pallister-hall syndrome : Unreported skeletal features of a GLI3 mutationROSCIOLI, T; KENNEDY, D; CUI, J et al.American journal of medical genetics. 2005, Vol 136A, Num 4, pp 390-394, issn 0148-7299, 5 p.Article

A Newly Recognized Syndrome With Characteristic Facial Features, Skeletal Dysplasia, and Developmental DelayBARATELA, Wagner A. R; BOBER, Michael B; LACHMAN, Ralph et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 8, pp 1815-1822, issn 1552-4825, 8 p.Article

A Deleterious Founder Mutation in the BMPER Gene Causes Diaphanospondylodysostosis (DSD)BEN-NERIAH, Ziva; MICHAELSON-COHEN, Rachel; INBAR-FEIGENBERG, Michal et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 11, pp 2801-2806, issn 1552-4825, 6 p.Article

Osseous fragility in Marshall-Smith syndromeDIAB, Mohammad; RAFF, Michael; GUNTHER, Daniel F et al.American journal of medical genetics. 2003, Vol 119A, Num 2, pp 218-222, issn 0148-7299, 5 p.Article

In-Frame Deletion in FLNA Causing Familial Periventricular Heterotopia With Skeletal Dysplasia in MalesPARRINI, Elena; LLANO RIVAS, Isabel; FERNANDEZ TORAL, Joaquin et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 5, pp 1140-1146, issn 1552-4825, 7 p.Article

Two-year-old girl with cervicomedullary junction stenosis and an unknown type of skeletal dysplasia : Case reportCHESHIER, Samuel Henry; MOHAMMAD YASHAR SORENA KALANI; PENDAKAUR, Arjun et al.Journal of neurosurgery. Pediatrics. 2008, Vol 2, Num 3, pp 200-202, issn 1933-0707, 3 p.Article

Further delineation of frank-ter Haar syndromeMAAS, Saskia M; KAYSERILI, Hulya; LAM, Jan et al.American journal of medical genetics. 2004, Vol 131A, Num 2, pp 127-133, issn 0148-7299, 7 p.Article

Frank -Ter Haar Syndrome in a NewbornFEMITHA, P; JOY, Rojo; GANE, Bahubali D et al.Indian journal of pediatrics. 2012, Vol 79, Num 8, pp 1091-1093, issn 0019-5456, 3 p.Article

Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and winchester syndromeZANKL, Andreas; PACHMAN, Lauren; POZNANSKI, Andrew et al.Journal of bone and mineral research (Print). 2007, Vol 22, Num 2, pp 329-333, issn 0884-0431, 5 p.Article

Prenatal diagnosis of hypochondroplasia : Report of two casesKARADIMAS, C; SIFAKIS, S; VALSAMOPOULOS, P et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 9, pp 998-1003, issn 1552-4825, 6 p.Article

Spondylo -mega -epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafnessAGARWAL, Vishal K; LACHMAN, Ralph S; RIMOIN, David L et al.American journal of medical genetics. 2005, Vol 136A, Num 3, pp 233-241, issn 0148-7299, 9 p.Article

Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2ZANKL, A; BONAFE, L; CALCATERRA, V et al.Clinical genetics. 2005, Vol 67, Num 3, pp 261-266, issn 0009-9163, 6 p.Article

A newly recognized skeletal dysplasia with rhizomelic limbs and retinitis pigmentosaMEGARBANE, André; MELICK, Nancy; DAOU, Linda et al.American journal of medical genetics. 2004, Vol 130A, Num 2, pp 176-180, issn 0148-7299, 5 p.Article

FibrochondrogenesisKULKARNI, M. L; MATADH, Prakash S; PRAVEEN PRABHU, S. P et al.Indian journal of pediatrics. 2005, Vol 72, Num 4, pp 355-357, issn 0019-5456, 3 p.Article

Treatment of poor linear growth in a patient with osteogenesis imperfecta type IIIROBINSON, Renee F; LONG, Lynn D; MAHAN, John D et al.Clinical therapeutics. 2004, Vol 26, Num 10, pp 1680-1683, issn 0149-2918, 4 p.Article

TRPV4-Pathy Manifesting Both Skeletal Dysplasia and Peripheral Neuropathy: A Report of Three PatientsCHO, Tae-Joon; MATSUMOTO, Kazu; MONGES, Soledad et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 4, pp 795-802, issn 1552-4825, 8 p.Article

Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDSMÄKLTIE, O; ELLIS, L; DURIE, P. R et al.Clinical genetics. 2004, Vol 65, Num 2, pp 101-112, issn 0009-9163, 12 p.Article