Shashi XLMR syndrome: Report of a second family

American Journal of Medical Genetics

Volumn 118 A, Issue 1, 2003, Pages 49-51

  Castro, Nelson H C ^a   Stocco dos Santos, Rita C ^a,e   Nelson, Retecher ^b   Beçak, Willy ^a   Hane, Bernhard ^b   Lindsey, Charles J ^c,e   Lubs, Herbert A ^d   Stevenson, Roger E ^b   Schwartz, Charles E ^b  

^a INSTITUTO BUTANTAN   (Brazil)

^b GREENWOOD GENETIC CENTER   (United States)

^c FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^d UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF TAUBATÉ   (Brazil)

Author keywords

Haplotype analysis; Shashi XLMR; Xq26 q27

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHROMOSOME XQ; CLINICAL FEATURE; COARSE FACE; FEMALE; HAPLOTYPE; HUMAN; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; OBESITY; PRIORITY JOURNAL; SHASHI XLMR SYNDROME; TESTIS DISEASE; X CHROMOSOME LINKED DISORDER;

GENETTA;

EID: 0041319383     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10888     Document Type: Article

References (5)

1. Chiurazzi P, Hamel BC, Neri G. 2001. XLMR genes: update 2000. Eur J Hum Genet 9:71-81.
2. Schwartz CE, Ulmer J, Brown A, Pancoast I, Goodman HO, Stevenson RE. 1990. Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21. Am J Hum Genet 47:454-458.
3. Shashi V, Berry MN, Shoaf S, Sciote JJ, Goldstein D, Hart TC. 2000. A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27. Am J Hum Genet 66:469-479.
4. Stevenson RE, Arena JF, Ouzts E, Gibson A, Shokeir MH, Vnencak-Jones C, Lubs HA, May M, Schwartz CE. 1998. Renpenning syndrome maps to Xp11. Am J Hum Genet 62:1092-1101.
5. Stevenson RE, Abidi F, Schwartz CE, Lubs HA, Holmes LB. 2000. Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome. Am J Med Genet 94:383-385.