Thyroid hormone biosynthesis, storage, and secretion require a series of highly regulated
steps. Iodide, the rate-limiting substrate for thyroid hormone synthesis, is actively transported …

Abstract Johanson-Blizzard syndrome (OMIM 243800) is an autosomal recessive disorder
that includes congenital exocrine pancreatic insufficiency, multiple malformations such as …

Johanson–Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized
by exocrine pancreatic insufficiency, typical facial features, dental anomalies …

Dental defects may be the physical expression of genetic defects, and so they can often be
seen in a variety of syndromes associated with malformations of organs. However, dental …

Paciente con anomalía de Ebstein y síndrome de Down. Una extraña combinación Page 1 218
www.actapediatricademexico.org Acta Pediátr Mex 2014;35:218-221. caso clínico dE intErés …

We report on a triplet pregnancy of consanguineous parents with one fetus being affected by
recurrent Johanson-Blizzard syndrome (JBS). At autopsy in the 35th gestational week, the …

El síndrome de Johanson-Blizzard es una enfermedad con herencia autosómica recesiva;
se caracteriza por aplasia o hipoplasia de las alas de la nariz, insuficiencia pancreática …

Patient with Ebstein anomaly and Down syndrome: Strange combination SciELO - Scientific
Electronic Library Online vol.35 número3 Síndrome de Johanson-Blizzard: Informe de un caso y …

Ectodermal dysplasias are a heterogeneous group of disorders comprising different clinical
conditions. Hydrotic ectodermal dysplasia is an autosomal dominant disorder characterized …

BACKGROUND Here we apply objective, reliable methods of dysmorphology diagnosis to a
patient with Johanson–Blizzard syndrome (MIM# 243800). Using an extensive normative …