Use of the term "Antley-Bixler syndrome": Minimizing confusion [1] (multiple letters)

American Journal of Human Genetics

Volumn 77, Issue 2, 2005, Pages 327-328

  Cragun, Deborah ^a   Hopkin, Robert J ^a,b   Miller, Walter I ^c,d  

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

^b UNIVERSITY OF CINCINNATI   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR;

AMBIGUITY; ANTLEY BIXLER SYNDROME; BRACHYCEPHALY; CAMPTODACTYLY; CHOANA ATRESIA; CRANIOFACIAL SYNOSTOSIS; EXOPHTHALMOS; FACE DYSMORPHIA; FEMUR MALFORMATION; FOOT MALFORMATION; GENE MUTATION; GENOTYPE; HUMAN; LETTER; MOLECULAR GENETICS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS;

EID: 22544468070     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/432164     Document Type: Letter

References (10)

1. R Antley D Bixler Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures Birth Defects Orig Artic Ser 11 1975 397 401
2. W Arlt EA Walker N Draper HE Ivison JP Ride F Hammer SM Chalder M Borucka-Mankiewicz BP Hauffa EM Malunowicz PM Stewart CH Shackleton Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study Lancet 363 2004 2128 2135
3. DL Cragun SK Trumpy CH Shackleton RI Kelley ND Leslie NP Mulrooney RJ Hopkin Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome Am J Med Genet A 129 2004 1 7
4. CE Flück T Tajima AV Pandey W Arlt K Okuhara CF Verge EW Jabs BB Mendonca K Fujieda WL Miller Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome Nat Genet 36 2004 228 230
5. M Fukami R Horikawa T Nagai T Tanaka Y Naiki N Sato T Okuya H Nakai S Soneda K Tachibana N Matsuo S Sato K Hom G Nishimura T Hasegawa T Ogata Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients J Clin Endocrinol Metab 90 2004 414 426
6. RJ Gorlin Patient described by Chun et al. may not present Antley-Bixler syndrome Am J Med Genet 83 1999 64
7. KW Gripp EH Zackai MM Cohen Jr Not Antley-Bixler syndrome Am J Med Genet 83 1999 65 68
8. N Huang AV Pandey V Agrawal W Reardon PD Lapunzina D Mowat EW Jabs GV Vliet J Sack CE Flück WL Miller Diversity and function of mutations in P450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis Am J Hum Genet 76 2005 729 749
9. W Reardon A Smith JW Honour P Hindmarsh D Das G Rumsby I Nelson S Malcolm L Ades D Sillence D Kumar C DeLozier-Blanchet S McKee T Kelly WL McKeehan M Baraitser RM Winter Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? J Med Genet 37 2000 26 32
10. C Shackleton J Marcos EM Malunowicz M Szarras-Czapnik P Jira NF Taylor N Murphy E Crushell M Gottschalk B Hauffa DL Cragun RJ Hopkin M Adachi W Arlt Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis Am J Med Genet A 128 2004 223 231