Hereditary renal adysplasia, pulmonary hypoplasia and Mayer-Rokitansky- Küster-Hauser (MRKH) syndrome: A case report

Orphanet Journal of Rare Diseases

Volumn 5, Issue 1, 2010, Pages

  Acién, Pedro ^a   Galn, Francisco ^b   Manchán, Irene ^b   Ruiz, Eva ^a   Acién, Maribel ^a   Alcaraz, Luis A ^c  

^a MIGUEL HERNÁNDEZ UNIVERSITY   (Spain)

^b Centro de Genetica Humana   (Spain)

^c Bioarray   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHROMOSOME 17Q; CHROMOSOME 22Q; CHROMOSOME BAND; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; FAMILY HISTORY; FEMALE; HEREDITY RENAL ADYSPLASIA; HIP DYSPLASIA; HUMAN; INTRAVENOUS PYELOGRAPHY; KARYOTYPE 46,XX; KIDNEY AGENESIS; KIDNEY MALFORMATION; LAPAROSCOPY; LUNG HYPOPLASIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE ANALYSIS; PHYSICAL EXAMINATION; PRIMARY AMENORRHEA; PROSTHESIS; ROKITANSKY SYNDROME; SURGICAL TECHNIQUE; ULTRASOUND; URETER; UTERUS; UTERUS HORN; VAGINA ATRESIA; CONGENITAL HIP DISLOCATION; GENETICS; KIDNEY DISEASE; LUNG DISEASE; MULTIPLE MALFORMATION SYNDROME; RADIOGRAPHY; SYNDROME;

ABNORMALITIES, MULTIPLE; ADOLESCENT; FEMALE; HIP DISLOCATION, CONGENITAL; HUMANS; KIDNEY DISEASES; LUNG DISEASES; SYNDROME;

EID: 77950676479     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-5-6     Document Type: Article

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