Primary pulmonary hypertension, congenital heart defect, central nervous system malformations, hypo- and aplastic toes: Another case of Yunis-Varón syndrome or report of a new entity

European Journal of Medical Genetics

Volumn 55, Issue 1, 2012, Pages 27-31

  Reutter, Heiko ^a   Bagci, Soyhan ^a   Müller, Andreas ^a   Gembruch, Ulrich ^a   Geipel, Annegret ^a   Berg, Christoph ^a   Eggermann, Thomas ^b   Spengler, Sabrina ^b   Bartmann, Peter ^a   Rudnik Schöneborn, Sabine ^b  

^a UNIVERSITY OF BONN   (Germany)

^b RWTH AACHEN UNIVERSITY   (Germany)

Author keywords

Aplastic distal phalanges; Primary pulmonary hypertension; Yunis Var n syndrome

Indexed keywords

GENOMIC DNA;

AGENESIS AND APLASIA; AMNIOCENTESIS; ARTICLE; CASE REPORT; CENTRAL NERVOUS SYSTEM MALFORMATION; CEREBELLUM HYPOPLASIA; CEREBELLUM VERMIS; CHROMOSOME ABERRATION; CONGENITAL HEART MALFORMATION; CORPUS CALLOSUM; DEVELOPMENTAL DISORDER; DISTAL PHALANX; FAILURE TO THRIVE; FEMALE; FETUS ECHOGRAPHY; GENETIC DISORDER; GESTATIONAL AGE; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYDRAMNIOS; HYDROTHORAX; HYPO APLASTIC TOE; KARYOTYPING; MICROPHTHALMIA; MUSCLE HYPOTONIA; NEWBORN; NOSE FEEDING; NUCHAL TRANSLUCENCY MEASUREMENT; PULMONARY HYPERTENSION; RETINA DISEASE; SCALP HAIR; THORAX RADIOGRAPHY; YUNIS VARON SYNDROME;

CENTRAL NERVOUS SYSTEM DISEASES; CLEIDOCRANIAL DYSPLASIA; ECHOENCEPHALOGRAPHY; ECTODERMAL DYSPLASIA; FEMALE; GESTATIONAL AGE; HEART DEFECTS, CONGENITAL; HUMANS; HYPERTENSION, PULMONARY; INFANT, NEWBORN; KARYOTYPE; LIMB DEFORMITIES, CONGENITAL; MICROGNATHISM; TOES;

EID: 84857189187     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.09.002     Document Type: Article

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