Tetra-amelia and lung hypo/aplasia syndrome: New case report and review

American Journal of Medical Genetics, Part A

Volumn 146, Issue 21, 2008, Pages 2799-2803

  Sousa, Sérgio B ^a   Pina, Raquel ^a   Ramos, Lina ^a   Pereira, Naigel ^b   Krahn, Martin ^c   Borozdin, Wiktor ^d   Kohlhase, Jürgen ^d   Amorim, Marta ^a   Gonnet, Katia ^c   Lévy, Nicolas ^c   Carreira, Isabel M ^e   Couceiro, Ana Bela ^b   Saraiva, Jorge M ^a  

^a CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^b Centro de Diagnóstico Pré Natal da Maternidade Bissaya Barreto   (Portugal)

^c TIMONE HOSPITAL   (France)

^d UNIVERSITY OF FREIBURG   (Germany)

^e UNIVERSITY OF COIMBRA   (Portugal)

Author keywords

Cleft lip palate; Lung aplasia; Tetra amelia

Indexed keywords

GENOMIC DNA;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CLEFT LIP PALATE; DIFFERENTIAL DIAGNOSIS; FETUS; FETUS ECHOGRAPHY; HUMAN; KARYOTYPE; LIMB MALFORMATION; LUNG AGENESIS; MULTIPLE MALFORMATION SYNDROME; PHOCOMELIA; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SYNDROME DELINEATION; X RAY;

TETRA;

EID: 55849123034     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32489     Document Type: Article

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