Molecular and clinical analysis in a series of patients with pyknodysostosis reveals some uncommon phenotypic findings

International Journal of Clinical and Experimental Medicine

Volumn 7, Issue 11, 2014, Pages 3915-3923

  Valdes Flores, Margarita ^a   Hidalgo Bravo, Alberto ^a   Casas Avila, L ^a   Chima Galan, Carmen ^b   Hidalgo Bravo, Eric J ^a   Pineda Gomez, Ernesto ^a   Lopez Estrada, Druso ^a   Zenteno, Juan C ^c  

^a National Institute of Rehabilitation   (Mexico)

^b CENTRO MÉDICO NACIONAL 20 DE NOVIEMBRE   (Mexico)

^c Department of Biochemistry UNAM and Department of Genetics Institute of Ophthalmology Conde de Valenciana   (Mexico)

Author keywords

Bone; Cathepsin K; Dysplasia; Pyknodysostosis; Sclerosing

Indexed keywords

CATHEPSIN K;

ADOLESCENT; ADULT; AGAR GEL ELECTROPHORESIS; ARTICLE; BONE DENSITY; CHILD; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; CONDUCTION DEAFNESS; CONTROLLED STUDY; DUAL ENERGY X RAY ABSORPTIOMETRY; EXON; FEMALE; GENE MUTATION; HAND RADIOGRAPHY; HOMOZYGOSITY; HUMAN; LUMBAR SPINE; MALE; MIDDLE AGED; MISSENSE MUTATION; PRESCHOOL CHILD; PYCNODYSOSTOSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; SEQUENCE ANALYSIS; SKULL RADIOGRAPHY; SPINE RADIOGRAPHY;

EID: 84918586928     PISSN: None     EISSN: 19405901     Source Type: Journal    
DOI: None     Document Type: Article

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