Bladder exstrophy and Epstein type congenital macrothrombocytopenia: Evidence for a common cause? [5]

American Journal of Medical Genetics, Part A

Volumn 140, Issue 20, 2006, Pages 2251-2253

  Utsch, Boris ^a   DiFeo, Analisa ^b   Kujat, Annegret ^c   Karle, Stephanie ^a   Schuster, Volker ^c   Lenk, Harald ^c   Jacobs, Ulla ^a   Müller, Martin ^a   Dötsch, Jörg ^a   Rascher, Wolfgang ^a   Reutter, Heiko ^d   Martignetti, John A ^b   Ludwig, Michael ^d   Tröbs, Ralf Bodo ^c  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF LEIPZIG   (Germany)

^d UNIVERSITY OF BONN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID;

AMINO ACID SUBSTITUTION; AMNIOCENTESIS; BLADDER EXSTROPHY; BLADDER SURGERY; BONE MARROW BIOPSY; CASE REPORT; CLINICAL FEATURE; DIAGNOSTIC IMAGING; DNA DETERMINATION; FEMALE; FETUS ECHOGRAPHY; GENE; GENE SEQUENCE; HUMAN; LETTER; MEGAKARYOPOIESIS; MISSENSE MUTATION; MYH9 GENE; NEPHROTIC SYNDROME; NEWBORN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PUBIS SYMPHYSIS; SEQUENCE ANALYSIS; SYMPTOM; THROMBOCYTOPENIA; VAGINA DISEASE;

BLADDER EXSTROPHY; FEMALE; HAPLOTYPES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MOLECULAR MOTOR PROTEINS; MUTATION, MISSENSE; MYOSIN HEAVY CHAINS; SEQUENCE ANALYSIS, DNA; THROMBOCYTOPENIA;

EID: 33749488943     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31454     Document Type: Letter

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