Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome

American Journal of Medical Genetics, Part A

Volumn 173, Issue 10, 2017, Pages 2776-2781

  Reynolds, Kara K ^a   Juusola, Jane ^b   Rice, Gregory M ^a   Giampietro, Philip F ^c  

^a UNIVERSITY OF WISCONSIN MADISON   (United States)

^b GENEDX   (United States)

^c DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

Author keywords

diaphragmatic hernia; Fryns syndrome; HPMRS glycosylphosphatidylinositol (GPI) anchor synthesis pathway; Mabry syndrome

Indexed keywords

ALKALINE PHOSPHATASE;

ALKALINE PHOSPHATASE BLOOD LEVEL; ANUS ATRESIA; ANUS SURGERY; ARTICLE; BLADDER DISTENSION; CASE REPORT; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL DIAPHRAGM HERNIA; FACIES; FEMALE; FETUS; FETUS BLADDER; FIRST TRIMESTER PREGNANCY; FOOT MALFORMATION; FRYNS SYNDROME; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC DISORDER; GENETIC VARIATION; GESTATIONAL AGE; HEAD CIRCUMFERENCE; HEART ATRIUM SEPTUM DEFECT; HIRSCHSPRUNG DISEASE; HUMAN; HYDRAMNIOS; HYDRONEPHROSIS; INTESTINE MALROTATION; MABRY SYNDROME; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MICROGNATHIA; NEWBORN; PATHOGENESIS; PHENOTYPE; PIGV GENE; PRENATAL PERIOD; PRIORITY JOURNAL; SEIZURE; STILLBIRTH; WHOLE EXOME SEQUENCING; ADULT; DIAPHRAGM HERNIA; DISORDERS OF MINERAL, ELECTROLYTE AND METAL METABOLISM; FATALITY; INFANT; INTELLECTUAL IMPAIRMENT; LIMB MALFORMATION; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; PREGNANCY; PRENATAL DIAGNOSIS;

ABNORMALITIES, MULTIPLE; ADULT; FACIES; FATAL OUTCOME; FEMALE; HERNIA, DIAPHRAGMATIC; HERNIAS, DIAPHRAGMATIC, CONGENITAL; HUMANS; INFANT; INTELLECTUAL DISABILITY; LIMB DEFORMITIES, CONGENITAL; MALE; PHENOTYPE; PHOSPHORUS METABOLISM DISORDERS; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 85029602918     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.38379     Document Type: Article

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