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Baller-Gerold syndrome
Relevant markers:
Absent thumbAnal atresiaCurved ulnaHypoplastic thumb/sRadial aplasiaShort ulnaParents markers:CraniosynostosisGenitourinaryHeartPelvis bonesSpine and Pelvis
Involved genes:
(gene — definition — chromosome)RECQL4 — RECQ PROTEIN-LIKE 4 — 8q24.3 Inheritance mode: AR References: 2012 Prenatal Diagnosis Case report Read on PubMed Login for more details.