Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood

American Journal of Medical Genetics, Part A

Volumn 152, Issue 8, 2010, Pages 2115-2119

  Izumi, Kosuke ^a,b,c   Takagi, Masaki ^d   Parikh, Aditi S ^a,b,c   Hahn, Amanda ^a,b   Miskovsky, Shana N ^a   Nishimura, Gen ^e   Torii, Chiharu ^d   Kosaki, Kenjiro ^d   Hasegawa, Tomonobu ^d   Neilson, Derek E ^a,b,c,f  

^a UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

^b CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c CASE WESTERN RESERVE UNIVERSITY   (United States)

^d KEIO UNIVERSITY   (Japan)

^e Tokyo Metropolitan Kiyose Children's Hospital   (Japan)

^f CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTHRALGIA; BONE DISEASE; BONE MASS; BONE RADIOGRAPHY; CASE REPORT; CLINICAL FEATURE; DUAL ENERGY X RAY ABSORPTIOMETRY; GENE DELETION; GENE MUTATION; GENETIC CODE; HUMAN; HYPOGONADISM; HYPOTRICHOSIS; LETTER; MALE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; OSTEOARTHRITIS; OSTEOPENIA; OSTEOPOROSIS; PHENOTYPE; PRIORITY JOURNAL; SCORING SYSTEM; TRICHORHINOPHALANGEAL SYNDROME;

ADULT; AGE OF ONSET; AMINO ACID SEQUENCE; BONE AND BONES; DNA-BINDING PROTEINS; HUMANS; LANGER-GIEDION SYNDROME; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; SEQUENCE HOMOLOGY, AMINO ACID; TRANSCRIPTION FACTORS;

EID: 77955289414     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33511     Document Type: Letter

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