Molecular pathology of Shprintzen-Goldberg syndrome [4]

American Journal of Medical Genetics

Volumn 140 A, Issue 1, 2006, Pages 104-108

  Kosaki, Kenjiro ^a   Takahashi, Daisuke ^a   Udaka, Toru ^a   Kosaki, Rika ^b   Matsumoto, Morio ^a   Ibe, Shigeharu ^c   Isobe, Takeshi ^d   Tanaka, Yoko ^e   Takahashi, Takao ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b National Children Medical Center   (Japan)

^c Hokkaido University   (Japan)

^d Ibaraki Children's Hospital   (Japan)

^e TOKYO DENTAL COLLEGE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARACHNODACTYLY; BIRTH WEIGHT; CAMPTODACTYLY; CASE REPORT; CHILD; CLINICAL FEATURE; DIVERGENT STRABISMUS; EXOPHTHALMOS; FACE MALFORMATION; HUMAN; HUMAN CELL; HYPERTELORISM; LETTER; MALE; MULTIPLE MALFORMATION SYNDROME; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE; PHYSICAL EXAMINATION; PIGEON THORAX; PRIORITY JOURNAL; PTOSIS; SCOLIOSIS; SHPRINTZEN GOLDBERG SYNDROME;

ABNORMALITIES, MULTIPLE; ALTERNATIVE SPLICING; CHILD; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; CRANIOSYNOSTOSES; DNA MUTATIONAL ANALYSIS; FINGERS; HEART DEFECTS, CONGENITAL; HUMANS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTATION; MUTATION, MISSENSE; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; SYNDROME;

COLUMBA;

EID: 30144438033     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31006     Document Type: Letter

References (8)

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