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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.

AuthorsCarola Cheroki, Ana Cristina Krepischi-Santos, Carla Rosenberg, Fernanda Sarquis Jehee, Regina Célia Mingroni-Netto, Ivo Pavanello Filho, Sebastião Zanforlin Filho, Chong Ae Kim, Vicente R Bagnoli, Berenice B Mendonça, Karoly Szuhai, Paulo A Otto
JournalAmerican journal of medical genetics. Part A (Am J Med Genet A) Vol. 140 Issue 12 Pg. 1339-42 (Jun 15 2006) ISSN: 1552-4825 [Print] United States
PMID16691591 (Publication Type: Case Reports, Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Genetic Markers
  • Proto-Oncogene Proteins
  • Receptors, Retinoic Acid
  • Retinoid X Receptor alpha
  • WNT4 protein, human
  • Wnt Proteins
  • Wnt4 Protein
  • retinoic acid receptor gamma
  • DNA
Topics
  • Abnormalities, Multiple (pathology)
  • Adolescent
  • Chromosome Deletion
  • Chromosomes, Human, Pair 22
  • DNA (analysis, genetics)
  • Female
  • Genetic Markers
  • Heredity
  • Humans
  • Nucleic Acid Hybridization
  • Oligonucleotide Array Sequence Analysis
  • Physical Chromosome Mapping
  • Polymorphism, Single Nucleotide
  • Polymorphism, Single-Stranded Conformational
  • Proto-Oncogene Proteins (genetics)
  • Radiography
  • Receptors, Retinoic Acid (genetics)
  • Retinoid X Receptor alpha (genetics)
  • Spine (abnormalities, diagnostic imaging)
  • Syndrome
  • Ultrasonography
  • Urogenital Abnormalities (diagnosis, diagnostic imaging, pathology)
  • Wnt Proteins (genetics)
  • Wnt4 Protein

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