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Table 1 Macroscopic findings

From: Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas

Endocrine organs

Thyroidal atrophy, adrenal atrophy

Digestive organs

Malrotation of intestine, atresia of anus, agenesis of gallbladder, agenesis of pancreas

Urinary organs

Bilateral hypoplasia of kidney

Genitals

Bilateral cryptorchidism, external genitalia hypoplasia, and hypospadias

Others

Postaxial polysyndactyly, and polysplenia,

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Diagnostic Pathology

ISSN: 1746-1596

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