Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women [4]

American Journal of Medical Genetics, Part A

Volumn 140, Issue 12, 2006, Pages 1339-1342

  Cheroki, Carola ^a   Krepischi Santos, Ana Cristina ^a   Rosenberg, Carla ^a   Jehee, Fernanda Sarquis ^a   Mingroni Netto, Regina Célia ^a   Pavanello Filho, Ivo ^b   Zanforlin Filho, Sebastião ^c   Kim, Chong Ae ^a   Bagnoli, Vicente R ^a   Mendonça, Berenice B ^a   Szuhai, Karoly ^d   Otto, Paulo A ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b Medical Center Bela Vista   (Brazil)

^c CETRUS   (Brazil)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

RETINOIC ACID RECEPTOR GAMMA; RETINOID X RECEPTOR ALPHA;

BRACHYDACTYLY; CHROMOSOME 22Q; CHROMOSOME DELETION; CLINICAL ARTICLE; CLINODACTYLY; CONGENITAL HIP DISLOCATION; DIAGNOSTIC KIT; FEMALE; GENE; GENE MUTATION; HEARING IMPAIRMENT; HEART DISEASE; HUMAN; KARYOTYPE 46,XX; KIDNEY MALFORMATION; KLIPPEL FEIL SYNDROME; LETTER; PRIORITY JOURNAL; RAR GAMMA GENE; ROKITANSKY SYNDROME; RXR ALPHA GENE; SINGLE STRAND CONFORMATION POLYMORPHISM; SYNDACTYLY; VAGINA ATRESIA; WNT 4 GENE;

EID: 33744793991     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31254     Document Type: Letter

References (9)

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